Input: What are the symptoms of Thalassemia ?

Output: What are the signs and symptoms of Thalassemia? The signs and symptoms vary depending on the severity of the thalassemia. For example, people affected by milder forms of thalassemia can develop mild anemia or may have no signs or symptoms of the condition at all. Intermediate forms of thalassemia can cause mild to moderate anemia and may be associated with other health problems such as slowed growth, delayed puberty, bone problems and/or an enlarged spleen. In addition to the signs and symptoms seen in intermediate thalassemia, people with severe forms of thalassemia may also experience severe anemia, poor appetite, paleness, dark urine, yellow discoloration of skin (jaundice), and enlarged liver or heart. For more information on the signs and symptoms by type of thalassemia, please click here. The Human Phenotype Ontology provides the following list of signs and symptoms for Thalassemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the heme biosynthetic pathway 90% Abnormality of immune system physiology 7.5% Biliary tract abnormality 7.5% Cognitive impairment 7.5% Hemolytic anemia 7.5% Hydrops fetalis 7.5% Hypersplenism 7.5% Myelodysplasia 7.5% Splenomegaly 7.5% Hypochromic microcytic anemia - Reduced alpha/beta synthesis ratio - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What causes Thalassemia ?

Output: What causes thalassemia? There are two main types of thalassemia, alpha thalassemia and beta thalassemia, which each affect a different part of hemoglobin (the protein in red blood cells that carries oxygen). Hemoglobin is made up of two different components (subunits): beta globin and alpha globin. The HBB gene provides instructions for making beta globin, while the HBA1 and HBA2 genes provide instructions for making alpha globin. Each person has two copies of each of these genes, one inherited from the mother and one from the father. Changes (mutations) in the HBB gene lead to reduced levels of beta globin and cause beta thalassemia. Loss (deletion) of some or all of the HBA1 and/or HBA2 genes results in a shortage of alpha globin, leading to alpha thalassemia. </s>


Input: Is Thalassemia inherited ?

Output: How is thalassemia inherited? In general, thalassemia is inherited in an autosomal recessive manner; however, the inheritance can be quite complex as multiple genes can influence the production of hemoglobin. Most people affected by beta thalassemia have mutations in both copies of the HBB gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition; although some carriers of beta thalassemia develop mild anemia. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. The inheritance of alpha thalassemia is complicated by the fact that mutations in two different genes (HBA1 and HBA2) are associated with the condition. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. For each gene, one copy is inherited from the mother and one is inherited from the father. If each parent is missing at least one gene copy, their children are at risk for having alpha thalassemia. However, the exact risk and the severity of each child's condition depends on how many gene copies are lost (deleted) and which combination of the HBA1 and HBA2 genes are affected. </s>


Input: How to diagnose Thalassemia ?

Output: Is genetic testing available for thalassemia? Yes, genetic testing is available for HBB, HBA1 and HBA2, the genes known to cause thalassemia. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It has additional information on genetic testing for alpha thalassemia and beta thalassemia. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. </s>


Input: What are the treatments for Thalassemia ?

Output: How might thalassemia be treated? The best treatment options depend on the severity of thalassemia. People affected by a mild form often need little to no treatment, while people with intermediate to severe thalassemias may require frequent blood transfusions, iron chelation therapy (treatments to remove excess iron from the body), and/or folic acid supplementation. For more information on the treatment of thalassemia, please click here. </s>


Input: What is (are) Clear cell renal cell carcinoma ?

Output: Clear cell renal cell carcinoma is a cancer of the kidney.  The name "clear cell" refers to the appearance of the cancer cells when viewed with a microscope.[5258]  Clear cell renal cell carcinoma occurs when cells in the kidney quickly increase in number, creating a lump (mass).  Though the exact cause of clear cell renal cell carcinoma is unknown, smoking, the excessive use of certain medications, and several genetic predisposition conditions (such as von Hippel Lindau syndrome) may contribute to the development of this type of cancer.  Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy. </s>


Input: What are the treatments for Clear cell renal cell carcinoma ?

Output: What treatments for metastatic clear cell renal cell carcinoma are available in North America? There are several treatments for metastatic clear cell renal cell carcinoma available in North America.  IL-2 and sunitinib - as well as the medications temsirolimus, bevacizumab with interferon therapy, pazopanib, and sorafenib - are approved by the Food and Drug Administration for the treatment of metastatic clear cell renal cell carcinoma.  Because a cure for this disease has yet to be discovered, the National Cancer Institute suggests that individuals with metastatic clear cell renal cell carcinoma consider participation in a research study. IL-2 is offered as a treatment for this disease in some individuals because it has been shown to cause a complete disappearance of signs of this disease (remission) in 5% of treated patients.  As IL-2 may cause toxic side effects, it is most appropriate for patients who are in excellent health.  Sunitinib is offered because it has been shown to stabilize metastatic clear cell renal cell carcinoma by stopping the disease from getting worse.  Individuals treated with sunitinib showed no change in their disease for an average of 11 months. </s>


Input: What is (are) Cat scratch disease ?

Output: Cat scratch disease is an infectious illness caused by the bacteria bartonella. It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious disease is characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery. </s>


Input: What are the symptoms of Cat scratch disease ?

Output: What are the symptoms of cat scratch disease? Most people with cat scratch disease have been bitten or scratched by a cat and developed a mild infection at the point of injury. Lymph nodes, especially those around the head, neck, and upper limbs, become swollen. Additionally, a person with cat scratch disease may experience fever, headache, fatigue, achiness and discomfort (malaise), sore throat, enlarged spleen, and/or loss of appetite. </s>


Input: What are the symptoms of Annular pancreas ?

Output: What are the signs and symptoms of Annular pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Annular pancreas. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pancreas 90% Duodenal stenosis 90% Abnormality of the gastric mucosa 50% Annular pancreas - Autosomal dominant inheritance - High intestinal obstruction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Osteoglophonic dysplasia ?

Output: What are the signs and symptoms of Osteoglophonic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoglophonic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Craniosynostosis 90% Hypertelorism 90% Reduced number of teeth 90% Short stature 90% Abnormality of the clavicle 50% Abnormality of the pinna 50% Anteverted nares 50% Delayed skeletal maturation 50% Limb undergrowth 50% Abnormality of bone mineral density 7.5% Brachydactyly syndrome 7.5% Choanal atresia 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Hernia of the abdominal wall 7.5% Scoliosis 7.5% Abnormality of the nasopharynx - Autosomal dominant inheritance - Bowing of the long bones - Broad foot - Broad metacarpals - Broad metatarsal - Broad palm - Broad phalanx - Chordee - Cloverleaf skull - Delayed speech and language development - Depressed nasal bridge - Failure to thrive - Frontal bossing - High palate - Hypoplasia of midface - Hypoplastic scapulae - Hypoplastic toenails - Hypospadias - Increased susceptibility to fractures - Inguinal hernia - Long philtrum - Low-set ears - Malar flattening - Mandibular prognathia - Nasal obstruction - Platyspondyly - Pseudoarthrosis - Respiratory distress - Rhizomelia - Shallow orbits - Short foot - Short metacarpal - Short metatarsal - Short neck - Short nose - Short palm - Short phalanx of finger - Unerupted tooth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Congenital chloride diarrhea ?

Output: Congenital chloride diarrhea is a condition characterized by large, watery stools containing an excess of chloride. Individuals have intrauterine (pre-birth) and lifelong diarrhea; infants with the condition are often premature. The excessive diarrhea causes electrolyte and water deficits, which in turn cause volume depletion, hyperreninemia (elevated levels of renin in the blood), hyperaldosteronism, renal potassium wasting, and sometimes nephropathy. Mutations in the SLC26A3 gene have been found to cause the condition. It is inherited in an autosomal recessive manner. Treatment generally focuses on the individual symptoms of the condition and typically includes taking oral supplements of sodium and potassium chloride. </s>


Input: What are the symptoms of Congenital chloride diarrhea ?

Output: What are the signs and symptoms of Congenital chloride diarrhea? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital chloride diarrhea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abdominal distention - Abnormality of the cardiovascular system - Autosomal recessive inheritance - Dehydration - Diarrhea - Failure to thrive - Growth delay - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypochloremia - Hypokalemia - Hyponatremia - Metabolic alkalosis - Polyhydramnios - Premature birth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the treatments for Congenital chloride diarrhea ?

Output: How might congenital chloride diarrhea be treated? There is no cure for the underlying condition, so treatment mainly focuses on the symptoms. Studies have shown that early diagnosis and aggressive salt replacement therapy (replacing sodium and chloride, the 2 things that make up salt) are associated with normal growth and development, in addition to reduced mortality rates. In individuals with this condition, the goal is for the oral intake of chloride, sodium, and potassium to be greater than the amount lost through the feces (i.e., there must be a positive gastrointestinal balance) so that losses in sweat can be replaced. Replacement therapy with NaCl (sodium chloride) and KCl (potassium chloride) has been shown to be effective in children. One study showed that a medication called omeprazole, a proton-pump inhibitor, reduces electrolyte losses in individuals and thus promotes a positive gastrointestinal balance. However, this treatment does not reduce the need for careful monitoring of dietary intake, electrolyte concentrations, and urinary chloride loss. Another study discussed how butyrate could be effective in treating the condition, and that it is easily administered, useful in preventing severe dehydration episodes, and may be a promising approach for a long-term treatment. </s>


Input: What are the symptoms of Morquio syndrome B ?

Output: What are the signs and symptoms of Morquio syndrome B? The Human Phenotype Ontology provides the following list of signs and symptoms for Morquio syndrome B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aortic valve stenosis - Autosomal recessive inheritance - Carious teeth - Cervical myelopathy - Cervical subluxation - Coarse facial features - Constricted iliac wings - Coxa valga - Decreased beta-galactosidase activity - Disproportionate short-trunk short stature - Epiphyseal deformities of tubular bones - Flaring of rib cage - Genu valgum - Grayish enamel - Hearing impairment - Hepatomegaly - Hyperlordosis - Hypoplasia of the odontoid process - Inguinal hernia - Intimal thickening in the coronary arteries - Joint laxity - Juvenile onset - Keratan sulfate excretion in urine - Kyphosis - Mandibular prognathia - Metaphyseal widening - Opacification of the corneal stroma - Osteoporosis - Ovoid vertebral bodies - Platyspondyly - Pointed proximal second through fifth metacarpals - Prominent sternum - Recurrent upper respiratory tract infections - Restrictive lung disease - Scoliosis - Ulnar deviation of the wrist - Wide mouth - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Tetrahydrobiopterin deficiency ?

Output: Tetrahydrobiopterin (BH4) deficiency is a neurological condition caused by an inborn error of metabolism. BH4 is a substance in the body that enhances the action of other enzymes. Deficiency of BH4 leads to abnormally high blood levels of the amino acid phenylalanine, and low levels of certain neurotransmitters. Signs and symptoms can range from very mild to severe. Affected newborns appear normal at birth, but may begin to experience neurological symptoms such as abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. Without early, appropriate treatment, the condition can cause permanent intellectual disability and even death. BH4 deficiency is caused by mutations in any one of several genes including the GCH1, PCBD1, PTS, and QDPR genes. It is inherited in an autosomal recessive manner.Treatment depends on the genetic cause and severity, and may include a low phenylalanine diet; oral BH4 supplementation; and neurotransmitter replacement. </s>


Input: What are the symptoms of Tetrahydrobiopterin deficiency ?

Output: What are the signs and symptoms of Tetrahydrobiopterin deficiency? Infants with tetrahydrobiopterin (BH4) deficiency typically appear normal and healthy at birth. Neurological signs and symptoms usually become apparent over time, and can range from mild to severe. These may include abnormal muscle tone; poor sucking and coordination; seizures; and delayed motor development. Other manifestations may include decreased spontaneous movements and difficulty swallowing. Without early and appropriate treatment, signs and symptoms progress and affected individuals may experience irreversible intellectual disability, behavioral problems, an inability to control body temperature, and even death in severe cases. The Human Phenotype Ontology provides the following list of signs and symptoms for Tetrahydrobiopterin deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Microcephaly 90% Abnormality of eye movement - Ataxia - Autosomal recessive inheritance - Bradykinesia - Cerebral calcification - Choreoathetosis - Dysphagia - Dystonia - Episodic fever - Excessive salivation - Hyperkinesis - Hyperphenylalaninemia - Hyperreflexia - Hypertonia - Infantile onset - Intellectual disability - Intellectual disability, progressive - Irritability - Lethargy - Limb hypertonia - Motor delay - Muscular hypotonia - Muscular hypotonia of the trunk - Myoclonus - Parkinsonism - Poor suck - Progressive neurologic deterioration - Rigidity - Seizures - Severe muscular hypotonia - Small for gestational age - Somnolence - Transient hyperphenylalaninemia - Tremor - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ?

Output: What are the signs and symptoms of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital adrenal hyperplasia - Increased circulating ACTH level - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Stiff person syndrome ?

Output: Stiff person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. Symptoms may include muscle stiffness in the trunk and limbs, and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. Affected people may also have abnormal postures, such as being hunched over. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. The exact causes of SPS is not known. Treatment may involve high-dose diazepam, anti-convulsants, or intravenous immunoglobulin (IVIG). </s>


Input: What are the symptoms of Stiff person syndrome ?

Output: What are the signs and symptoms of Stiff person syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Stiff person syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Agoraphobia - Anemia - Anxiety - Asymmetric limb muscle stiffness - Autoimmunity - Axial muscle stiffness - Depression - Exaggerated startle response - Fever - Frequent falls - Hyperhidrosis - Hyperreflexia - Hypertension - Lumbar hyperlordosis - Myoclonic spasms - Opisthotonus - Proximal limb muscle stiffness - Rigidity - Sporadic - Tachycardia - Vitiligo - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What causes Stiff person syndrome ?

Output: What causes stiff person syndrome? Scientists dont yet understand what causes stiff person syndrome, but research indicates that it is the result of an abnormal autoimmune response in the brain and spinal cord. Most people with stiff person syndrome have antibodies to glutamic acid decarboxylase (GAD), a protein in some nerve cells involved in making a substance called gamma-aminobutyric acid (GABA) that helps to control muscle movement. The symptoms of stiff person syndrome may develop when the immune system mistakenly attacks the neurons that produce GAD, leading to a deficiency of this protein in the body. The exact role that deficiency of GAD plays in the development of stiff person syndrome is not fully understood. </s>


Input: Is Stiff person syndrome inherited ?

Output: Is stiff person syndrome inherited? Genetic factors involved in causing stiff person syndrome have not been established.  While most cases appear to occur in an isolated manner, some familial cases have been reported. The fact that stiff person syndrome can occur with other autoimmune disorders suggests that genetics may play a role. </s>


Input: How to diagnose Stiff person syndrome ?

Output: Is genetic testing available for stiff person syndrome? Genetic testing is not available for stiff person syndrome, as the underlying genetic cause (if any) has not yet been established. How is stiff person syndrome diagnosed? A diagnosis of stiff person syndrome (SPS) is typically made based on the presence of the characteristic symptoms, a detailed medical history, a thorough clinical exam, and various tests. Specific tests are used to support or confirm the diagnosis, and to rule out conditions with overlapping symptoms. These tests may include screening tests to detect antibodies against glutamic acid decarboxylase (GAD) and amphiphysin, and an electromyography (EMG) which records electrical activity in skeletal muscles. About 60% to 80% of affected people have autoantibodies against GAD. Although the absence of GAD antibodies does not rule out SPS, the presence of high levels of GAD antibodies in appropriate people strongly supports the diagnosis. An EMG typically shows continuous motor activity, which is characteristic of SPS. Very high levels of GAD antibodies and characteristic EMG findings will confirm the diagnosis in the majority of people with SPS. Additional laboratory testing may also be used to support a diagnosis of SPS, such as hemoglobin A1C (due to association with diabetes mellitus); complete blood count (due to association with pernicious anemia); comprehensive metabolic profile; and thyroid-stimulating hormone (due to association with thyroiditis). Lumbar puncture should be obtained in people with symptoms consistent with SPS to rule out other causes. Oligoclonal bands can be seen in about two thirds of affected people who are antibody-positive. </s>


Input: What are the treatments for Stiff person syndrome ?

Output: How might stiff person syndrome be treated? Treatment of stiff person syndrome (SPS) focuses on the specific symptoms present in each person. Benzodiazepines may be used to treat muscle stiffness and episodic spasms; baclofen may be used in addition to benzodiazepines. Anti-seizure drugs have reportedly been effective for some people. More recently, studies have shown that intravenous immunoglobulin (IVIG) is effective in improving many of the symptoms of SPS. Research involving additional treatment options for SPS is ongoing. Additional information about the treatment of stiff person syndrome can be viewed on Medscape Reference's Web site. </s>


Input: What is (are) Dextrocardia ?

Output: Dextrocardia is a condition in which the heart is located in the right side of the chest instead of the left. It is usually present from birth (congenital). There are several types of dextrocardia.  The simplest type occurs when the shape and structure of the heart is a mirror image of a normal heart.  Other types of dextrocardia may involve defects of the walls of the heart, nearby blood vessels, or other organs in the abdomen. Chest X-raxys and echocardiograms can be used to determine which type of dextrocardia is present. </s>


Input: What is (are) Werner's syndrome ?

Output: Werner's syndrome is a disease chiefly characterized by premature aging and cancer predisposition. Development is typically normal until the end of the first decade; the first sign is the lack of a growth spurt during puberty. Early signs (usually in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction (heart attack) and cancer are the most common causes of death, which typically occurs in the late 40s. It is caused by mutations in the WRN gene and is inherited in an autosomal recessive manner. Management focuses on treatment of signs and symptoms and prevention of secondary complications. </s>


Input: What are the symptoms of Werner's syndrome ?

Output: What are the signs and symptoms of Werner's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Werner's syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal hair whorl 90% Abnormality of the thorax 90% Cataract 90% Convex nasal ridge 90% Lipoatrophy 90% Pili torti 90% Prematurely aged appearance 90% Short stature 90% White forelock 90% Abnormality of retinal pigmentation 50% Abnormality of the pulmonary artery 50% Abnormality of the testis 50% Abnormality of the voice 50% Aplasia/Hypoplasia of the skin 50% Chondrocalcinosis 50% Congestive heart failure 50% Coronary artery disease 50% Decreased fertility 50% Diabetes mellitus 50% Hyperkeratosis 50% Increased bone mineral density 50% Lack of skin elasticity 50% Narrow face 50% Reduced bone mineral density 50% Rocker bottom foot 50% Short palm 50% Skeletal muscle atrophy 50% Skin ulcer 50% Telangiectasia of the skin 50% Abnormality of the cerebral vasculature 7.5% Hypertension 7.5% Laryngomalacia 7.5% Limitation of joint mobility 7.5% Meningioma 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Neoplasm of the oral cavity 7.5% Neoplasm of the skin 7.5% Neoplasm of the small intestine 7.5% Neoplasm of the thyroid gland 7.5% Ovarian neoplasm 7.5% Renal neoplasm 7.5% Secondary amenorrhea 7.5% Abnormality of the hair - Autosomal recessive inheritance - Hypogonadism - Osteoporosis - Osteosarcoma - Premature arteriosclerosis - Progeroid facial appearance - Retinal degeneration - Subcutaneous calcification - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Penttinen-Aula syndrome ?

Output: What are the signs and symptoms of Penttinen-Aula syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Penttinen-Aula syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Scoliosis 5% Wormian bones 5% Brachydactyly syndrome - Delayed cranial suture closure - Delayed eruption of teeth - Delayed skeletal maturation - Growth abnormality - Hyperkeratosis - Hypermetropia - Hypoplasia of midface - Lipoatrophy - Narrow nose - Osteolytic defects of the phalanges of the hand - Osteopenia - Proptosis - Sensorineural hearing impairment - Slender long bone - Sparse hair - Thin calvarium - Thin vermilion border - Thyroid-stimulating hormone excess - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Glucocorticoid-remediable aldosteronism ?

Output: Glucocorticoid-remediable aldosteronism is one of three types of familial hyperaldosteronism and was first described in 1966. Aldosterone is a hormone manufactured by the adrenal glands which helps the body retain water and sodium and excrete potassium. It is caused by a fusion of the CYP11B1 and CYP11B2 genes and is inherited in an autosomal dominant manner. Individuals with this condition usually have hypertension (high blood pressure) before age 21. These individuals are also at an increased risk for a certain type of stroke known as a hemorrhagic stroke. First-line therapy consists of a steroid such as prednisone, dexamethasone, or hydrocortisone. This will often correct the overproduction of aldosterone, lower the blood pressure, and correct the potassium levels. </s>


Input: What are the symptoms of Glucocorticoid-remediable aldosteronism ?

Output: What are the signs and symptoms of Glucocorticoid-remediable aldosteronism? The Human Phenotype Ontology provides the following list of signs and symptoms for Glucocorticoid-remediable aldosteronism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the urinary system - Adrenal hyperplasia - Adrenogenital syndrome - Autosomal dominant inheritance - Decreased circulating renin level - Hyperaldosteronism - Hypertension - Onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Rommen Mueller Sybert syndrome ?

Output: What are the signs and symptoms of Rommen Mueller Sybert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Rommen Mueller Sybert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the palate 90% Cognitive impairment 90% Microcephaly 90% Muscular hypotonia 90% Seizures 90% Short stature 90% Wide nasal bridge 90% Abnormality of the aorta 50% Abnormality of the nipple 50% Abnormality of the ribs 50% Anterior creases of earlobe 50% Downturned corners of mouth 50% Long palpebral fissure 50% Long philtrum 50% Plagiocephaly 50% Proximal placement of thumb 50% Single transverse palmar crease 50% Tetralogy of Fallot 50% Ventricular septal defect 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Keratolytic winter erythema ?

Output: What are the signs and symptoms of Keratolytic winter erythema? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratolytic winter erythema. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Palmoplantar keratoderma 90% Autosomal dominant inheritance - Erythema - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Lynch syndrome ?

Output: Lynch syndrome is an inherited condition that causes an increased risk of developing cancer. Individuals with Lynch syndrome have a higher risk of developing colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with Lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer. Even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with Lynch syndrome may occasionally have colon polyps. Lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the MLH1, MSH2, MSH6, PMS2 or EPCAM gene. </s>


Input: What are the symptoms of Lynch syndrome ?

Output: What are the signs and symptoms of Lynch syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lynch syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia 90% Constipation 90% Gastrointestinal hemorrhage 90% Intestinal obstruction 90% Malabsorption 90% Neoplasm of the colon 90% Neoplasm of the rectum 90% Weight loss 90% Biliary tract neoplasm 50% Neoplasm of the nervous system 50% Neoplasm of the pancreas 50% Neoplasm of the small intestine 50% Neoplasm of the stomach 50% Ovarian neoplasm 50% Renal neoplasm 50% Uterine neoplasm 50% Ascites 7.5% Hepatomegaly 7.5% Nausea and vomiting 7.5% Recurrent urinary tract infections 7.5% Autosomal dominant inheritance - Colon cancer - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What causes Lynch syndrome ?

Output: What causes Lynch syndrome? Lynch syndrome is caused by mutations in at least 5 genes (MLH1, MSH2, MSH6, PMS2 or  EPCAM). All of these genes are involved in the repair of mistakes made when DNA is copied (DNA replication) in preparation for cell division. Mutations in any of these genes prevent the proper repair of DNA replication mistakes. As the abnormal cells continue to divide, the accumulated mistakes can lead to uncontrolled cell growth and possibly cancer. Although mutations in these genes predispose individuals to cancer, not all people who carry these mutations develop cancerous tumors. </s>


Input: Is Lynch syndrome inherited ?

Output: Is Lynch syndrome an inherited condition? Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer. </s>


Input: How to diagnose Lynch syndrome ?

Output: How is Lynch syndrome diagnosed? The diagnosis of Lynch syndrome can be made on the basis of the Amsterdam clinical criteria or on the basis of molecular genetic testing for germline mutations in one of several mismatch repair (MMR) genes. To read detailed diagnostic strategies, click here. </s>


Input: What is (are) Mucopolysaccharidosis type IIIC ?

Output: Mucopolysaccharidosis type IIIC (MPS IIIC) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIC results from the missing or altered enzyme acetyl-CoAlpha-glucosaminide acetyltransferase. This condition is inherited in an autosomal recessive manner. There is no specific treatment. Most people with MPS IIIC live into their teenage years; some live longer. </s>


Input: What are the symptoms of Mucopolysaccharidosis type IIIC ?

Output: What are the signs and symptoms of Mucopolysaccharidosis type IIIC? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIC. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Coarse hair 90% Cognitive impairment 90% Hypertrichosis 90% Malabsorption 90% Mucopolysacchariduria 90% Otitis media 90% Sleep disturbance 90% Abnormal form of the vertebral bodies 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the ribs 50% Cataract 50% Craniofacial hyperostosis 50% Developmental regression 50% Genu valgum 50% Hearing impairment 50% Hypertonia 50% Incoordination 50% Limitation of joint mobility 50% Myopia 50% Opacification of the corneal stroma 50% Scoliosis 50% Seizures 50% Umbilical hernia 50% Vocal cord paresis 50% Hepatomegaly 7.5% Splenomegaly 7.5% Asymmetric septal hypertrophy - Autosomal recessive inheritance - Cellular metachromasia - Coarse facial features - Dense calvaria - Diarrhea - Dolichocephaly - Dysostosis multiplex - Dysphagia - Growth abnormality - Heparan sulfate excretion in urine - Hernia - Hirsutism - Hyperactivity - Intellectual disability - Joint stiffness - Kyphoscoliosis - Loss of speech - Motor delay - Motor deterioration - Ovoid thoracolumbar vertebrae - Recurrent upper respiratory tract infections - Rod-cone dystrophy - Synophrys - Thickened ribs - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Merlob Grunebaum Reisner syndrome ?

Output: What are the signs and symptoms of Merlob Grunebaum Reisner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Merlob Grunebaum Reisner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Duplication of thumb phalanx 90% Finger syndactyly 90% Opposable triphalangeal thumb 90% Preaxial hand polydactyly 90% Triphalangeal thumb 90% Duplication of phalanx of hallux 75% Preaxial foot polydactyly 75% Abnormality of the metacarpal bones 50% Postaxial hand polydactyly 50% Toe syndactyly 50% Postaxial foot polydactyly 33% Syndactyly 33% Autosomal dominant inheritance - Complete duplication of distal phalanx of the thumb - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans ?

Output: What are the signs and symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe achondroplasia with developmental delay and acanthosis nigricans. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the sacroiliac joint 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cutis laxa 90% Depressed nasal bridge 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Muscular hypotonia 90% Narrow chest 90% Platyspondyly 90% Respiratory insufficiency 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Small face 90% Split hand 90% Aplasia/Hypoplasia of the lungs 50% Frontal bossing 50% Hearing impairment 50% Increased nuchal translucency 50% Kyphosis 50% Polyhydramnios 50% Proptosis 50% Ventriculomegaly 50% Abnormality of neuronal migration 7.5% Abnormality of the kidney 7.5% Acanthosis nigricans 7.5% Atria septal defect 7.5% Cloverleaf skull 7.5% Hydrocephalus 7.5% Limitation of joint mobility 7.5% Patent ductus arteriosus 7.5% Seizures 7.5% Autosomal dominant inheritance - Decreased fetal movement - Flared metaphysis - Heterotopia - Hypoplastic ilia - Intellectual disability, profound - Lethal short-limbed short stature - Metaphyseal irregularity - Neonatal death - Severe platyspondyly - Severe short stature - Short long bone - Short ribs - Short sacroiliac notch - Small abnormally formed scapulae - Small foramen magnum - Wide-cupped costochondral junctions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Hypomyelination with atrophy of basal ganglia and cerebellum ?

Output: Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain.  Symptoms usually begin in infancy or early childhood and vary in severity; they include movement difficulties and delay in mental development or learning problems.  These symptoms occur because certain brain cells in individuals with H-ABC are not fully covered by myelin (hypomyelination), a substance that usually surrounds nerve cells to help them work better.  Also, this condition causes the breakdown (atrophy) of two parts of the brain that help to coordinate movement - the basal ganglia and cerebellum.  H-ABC is is caused by a mutation in the TUBB4A gene. </s>


Input: What are the symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum ?

Output: What are the signs and symptoms of Hypomyelination with atrophy of basal ganglia and cerebellum? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypomyelination with atrophy of basal ganglia and cerebellum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hearing impairment 5% Nystagmus 5% Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral hypomyelination - Choreoathetosis - Delayed speech and language development - Dysarthria - Dystonia - Intellectual disability - Leukodystrophy - Microcephaly - Motor delay - Muscular hypotonia of the trunk - Optic atrophy - Poor speech - Progressive - Rigidity - Seizures - Short stature - Spasticity - Specific learning disability - Sporadic - Tremor - Variable expressivity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What causes Hypomyelination with atrophy of basal ganglia and cerebellum ?

Output: What causes hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC)? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is caused by a mutation in the TUBB4A gene. The mutation usually occurs for the first time in a family as a result of a new mutation in the affected individual. The mutation is rarely inherited from a parent. </s>


Input: How to diagnose Hypomyelination with atrophy of basal ganglia and cerebellum ?

Output: How might hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) be diagnosed? Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is diagnosed by a magnetic resonance imaging (MRI) scan of the brain.  When the following three features are identified in the brain of an affected individuals, the diagnosis of H-ABC can be made: Decreased myelin (hypomyelination) in the brain.  Myelin usually forms a protective covering around brain cells.  In H-ABC, this covering is thinner than usual which makes it difficult for nerve cells to work properly. Breakdown (atrophy) of the basal ganglia, a part of the brain that directs and controls movement. Atrophy of the cerebellum, another part of the brain that controls movement. </s>


Input: What are the treatments for Hypomyelination with atrophy of basal ganglia and cerebellum ?

Output: How might hypomelination with atrophy of basal ganglia and cerebellum (H-ABC) be treated? Unfortunately, there is no known cure for hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC).  However, there is a case report of one patient's movement difficulties improving somewhat after he took the medication levodopa-carbidopa.  Another patient showed improvement in movement symptoms after taking folinic acid supplements. </s>


Input: What are the symptoms of Osteoporosis oculocutaneous hypopigmentation syndrome ?

Output: What are the signs and symptoms of Osteoporosis oculocutaneous hypopigmentation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoporosis oculocutaneous hypopigmentation syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Generalized osteoporosis - Hypopigmentation of the skin - Ocular albinism - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Vein of Galen aneurysm ?

Output: Vein of Galen aneurysm is a rare form of arteriovenous malformation in which a particular vein at the base of the brain, the vein of Galen, dilates causing too much blood to rush to the heart and leading to congestive heart failure. Sometimes the defect will be recognized on an ultrasound before birth, but most often it is seen in infants who experience rapid heart failure. In less severe cases, a child may develop hydrocephalus because the enlarged malformation blocks the normal flow or absorption of cerebrospinal fluid. Although the exact cause remains unknown, this condition appears to be a result of a defect in early fetal development. </s>


Input: What are the symptoms of Vein of Galen aneurysm ?

Output: What are the signs and symptoms of Vein of Galen aneurysm? The Human Phenotype Ontology provides the following list of signs and symptoms for Vein of Galen aneurysm. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cerebral vasculature 90% Aneurysm 50% Peripheral arteriovenous fistula 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Potocki-Shaffer syndrome ?

Output: Potocki-Shaffer syndrome is a contiguous gene deletion syndrome associated with deletions in a specific region of chromosome 11 (11p11.2). The characteristic features of Potocki-Shaffer syndrome include openings in the two bones that form the top and sides of the skull (enlarged parietal foramina), multiple benign bone tumors called exostoses, intellectual disability, developmental delay, a distinctive facial appearance, autism and problems with vision and hearing. In some cases, individuals with the syndrome may have a defect in the heart, kidneys, or urinary tract. The features of Potocki-Shaffer syndrome result from the loss of several genes on the short (p) arm of chromosome 11. In particular, the deletion of a gene called ALX4 causes enlarged parietal foramina, while the loss of another gene, EXT2, causes the multiple exostoses. Another condition called WAGR syndrome is caused by a deletion of genetic material in the p arm of chromosome 11, specifically at position 11p13. Occasionally, a deletion is large enough to include the 11p11.2 and 11p13 regions. Individuals with such a deletion have signs and symptoms of both Potocki-Shaffer syndrome and WAGR syndrome. A referral to an early childhood intervention and developmental-behavioral specialist at the time of diagnosis and to have an evaluation for vision and hearing problems, as well as a full skeletal survey at the time of diagnosis or by age 3 years, whichever is later, is recommended. </s>


Input: What are the symptoms of Potocki-Shaffer syndrome ?

Output: What are the signs and symptoms of Potocki-Shaffer syndrome? The signs and symptoms can vary depending on the area and amount deleted. Some individuals with the syndrome have few issues and lead a normal life while others are very severely affected. The following signs and symptoms may be present:  Enlarged parietal foramina  Multiple exostoses  Intellectual disability  Developmental delay  Failure to thrive  Autism  Behavioral problems  Deafness  Myopia (nearsightedness)  Nystagmus  Cataract  Strabismus  Aniridia  Distinct facial features (microcephaly, epicanthus, sparse eyebrows, prominent nose, small mandible)  Kidney problems MedlinePlus has information pages on some of these signs and symptoms or can direct to you other trusted websites that offer information. If you would like to read more, visit the link and enter the sign and symptom about which you would like to learn.  The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Shaffer syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Decreased skull ossification 90% Exostoses 90% Craniofacial dysostosis 33% Cutaneous syndactyly between fingers 2 and 5 5% Multiple exostoses 10/10 Downturned corners of mouth 8/9 Micropenis 5/6 Single transverse palmar crease 5/6 Parietal foramina 9/11 Intellectual disability 7/10 Brachycephaly 6/9 Short philtrum 6/9 Sparse lateral eyebrow 6/9 Brachydactyly syndrome 5/8 Muscular hypotonia 5/9 Wormian bones 3/6 Epicanthus 4/9 Telecanthus 4/9 Seizures 2/11 Broad forehead - Contiguous gene syndrome - High forehead - Short nose - Turricephaly - Underdeveloped nasal alae - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the treatments for Potocki-Shaffer syndrome ?

Output: How might Potocki-Shaffer be treated? The treatment depends on the signs and symptoms present in the affected individual. The following treatment options or recommendations might be offered: Treatment of Wilms tumor, which may include surgery to remove the kidney, radiation therapy and chemotherapy. Treatment of aniridia is aimed at maintaining vision. Glaucoma or cataracts can be treated with medication or surgery. Contact lenses should be avoided because they can damage the cornea. In cases of abnormalities in the testes or ovaries, surgery may be needed to remove them or to prevent cancer (gonadoblastoma). After they testes or ovaries are removed hormone replacement is needed. Children with undescended testicles (cryptorchidism) may also need surgery. In a study with 6 patients and a review of 31 previously reported cases of Potocki-Shaffer syndrome, the researchers made several recommendations for the care of children with the syndrome. These include: Referral to early childhood intervention and a developmental-behavioral specialist at the time of diagnosis; A full skeletal survey at diagnosis or by age three; Screening for strabismus and nystagmus by the pediatrician (at every well-child examination), and referral to a pediatric ophthalmologist at diagnosis or by age six months; Hearing loss evaluations in infants with the syndrome and after that at three months of age; audiogram at age one year and annually thereafter; Fluorescence in situ hybridization (FISH) studies and genetic counseling should be offered to the parents of a child with Potocki-Shaffer syndrome; Referral to a specialist in development and behavior at the time of diagnosis for vision therapy, physical, occupational and speech therapy; Abdominal and kidney ultrasound due to the possible risk of developing a Wilms' tumor, especially in those individuals who have a deletion in the 11p13 region;  Cardiac evaluation to detect any heart abnormalities; Thyroid hormone level measurements to detect the hypothyroidism; and MRI scans are recommended if the individual has seizures, microcephaly, or global developmental delay.  Some individuals with Potocki-Shaffer syndrome, WAGR syndrome, and renal insufficiency may be treated with dialysis or kidney transplant. </s>


Input: What are the symptoms of Monomelic amyotrophy ?

Output: What are the signs and symptoms of Monomelic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Monomelic amyotrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the upper limb 90% Asymmetric growth 90% EMG abnormality 90% Acrocyanosis 50% Decreased nerve conduction velocity 50% Abnormality of the immune system 7.5% Involuntary movements 7.5% Tremor 7.5% EMG: neuropathic changes - Fasciculations - Insidious onset - Interosseus muscle atrophy - Sporadic - Upper limb muscle weakness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Paramyotonia congenita ?

Output: Paramyotonia congenita is an inherited condition that affects muscles used for movement (skeletal muscles), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally and lead to muscle weakness.  Symptoms in paramyotonia congenita worsen during exposure to cold temperatures, and unlike many other forms of myotonia, worsen with exercise and repeated movements. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant pattern. </s>


Input: What are the symptoms of Paramyotonia congenita ?

Output: What are the signs and symptoms of Paramyotonia congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Paramyotonia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neonatal hypotonia 5% Autosomal dominant inheritance - Feeding difficulties - Handgrip myotonia - Infantile onset - Inspiratory stridor - Muscle stiffness - Muscle weakness - Myalgia - Paradoxical myotonia - Percussion myotonia - Phenotypic variability - Skeletal muscle hypertrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Dystonia 18 ?

Output: What are the signs and symptoms of Dystonia 18? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 18. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Irritability 5% Migraine 5% Ataxia - Autosomal dominant inheritance - Cerebral atrophy - Choreoathetosis - Cognitive impairment - Dyskinesia - Dystonia - EEG abnormality - Hypoglycorrhachia - Incomplete penetrance - Reticulocytosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) AL amyloidosis ?

Output: AL amyloidosisis the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of AL amyloidosis vary among patients because the build up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, liver, spleen, or kidneys. To diagnose AL amyloidosis, healthcare professionals use blood or urine tests to identify signs of amyloid protein and a biopsy to confirm the diagnosis. Treatment may include chemotherapy directed at the abnormal plasma cells, stem cell transplantation, or other treatments based on which symptoms have developed. </s>


Input: What are the symptoms of Pulmonary edema of mountaineers ?

Output: What are the signs and symptoms of Pulmonary edema of mountaineers? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary edema of mountaineers. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Elevated pulmonary artery pressure - Pulmonary edema - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Cornea guttata with anterior polar cataract ?

Output: What are the signs and symptoms of Cornea guttata with anterior polar cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Cornea guttata with anterior polar cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior polar cataract - Autosomal dominant inheritance - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of Arachnodactyly - intellectual disability - dysmorphism ?

Output: What are the signs and symptoms of Arachnodactyly - intellectual disability - dysmorphism? The Human Phenotype Ontology provides the following list of signs and symptoms for Arachnodactyly - intellectual disability - dysmorphism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly 90% Cognitive impairment 90% Decreased body weight 90% Long face 90% Long toe 90% Narrow face 90% Thin vermilion border 90% Trismus 90% Abnormality of calvarial morphology 50% Abnormality of immune system physiology 50% Abnormality of the genital system 50% Clinodactyly of the 5th finger 50% Hypertelorism 50% Hypertonia 50% Joint hypermobility 50% Long philtrum 50% Microcephaly 50% Narrow mouth 50% Pointed chin 50% Strabismus 50% Triphalangeal thumb 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What are the symptoms of FG syndrome 4 ?

Output: What are the signs and symptoms of FG syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for FG syndrome 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Neonatal hypotonia 6/8 Sensorineural hearing impairment 4/6 Feeding difficulties in infancy 5/8 Seizures 5/8 Prominent forehead 3/8 Scoliosis 2/8 Hypertelorism - Intellectual disability - Wide nasal bridge - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Cushing disease ?

Output: Cushing disease is a condition caused by elevated levels of a hormone called cortisol. It is part of a group of diseases known as Cushings syndrome. The signs and symptoms include weight gain around the trunk and in the face, stretch marks, easy bruising, a hump on the upper back, muscle weakness, tiredness, thin bones that are prone to fracture (osteoporosis), mood disorders and memory problems. Patients also have an increased risk of infections, high blood pressure and diabetes. Women may have irregular menses and a lot of hair in the body (hirsutism). Cushing disease occurs when a benign pituitary tumor (adenoma) or pituitary hyperplasia causes the adrenal glands to produce large amounts of cortisol. The genetic cause of Cushing disease is often unknown but some cases are caused by somatic mutations in genes involved in hormonal activity. Most cases occur sporadically in people with no family history of the condition. Rarely, Cushing disease can be inherited, either as an isolated condition or as part of a genetic syndrome (such as multiple endocrine neoplasia type 1 (MEN1) and familial isolated pituitary adenoma). Treatment generally involves surgery to remove the tumor and medications to decrease cortisol levels. </s>


Input: What are the symptoms of Cushing disease ?

Output: What are the signs and symptoms of Cushing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cushing disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of adipose tissue 90% Hypercortisolism 90% Neoplasm of the endocrine system 90% Round face 90% Thin skin 90% Truncal obesity 90% Acne 50% Bruising susceptibility 50% Decreased fertility 50% Diabetes mellitus 50% Hypertension 50% Hypertrichosis 50% Hypokalemia 50% Nephrolithiasis 50% Recurrent fractures 50% Reduced bone mineral density 50% Abdominal pain 7.5% Abnormality of the gastric mucosa 7.5% Aseptic necrosis 7.5% Cataract 7.5% Generalized hyperpigmentation 7.5% Hypertrophic cardiomyopathy 7.5% Migraine 7.5% Myopathy 7.5% Paronychia 7.5% Reduced consciousness/confusion 7.5% Secondary amenorrhea 7.5% Skin ulcer 7.5% Sleep disturbance 7.5% Telangiectasia of the skin 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Abdominal obesity - Abnormal fear/anxiety-related behavior - Alkalosis - Biconcave vertebral bodies - Edema - Facial erythema - Glucose intolerance - Hirsutism - Increased circulating ACTH level - Kyphosis - Mood changes - Oligomenorrhea - Osteoporosis - Pituitary adenoma - Poor wound healing - Psychotic mentation - Purpura - Skeletal muscle atrophy - Striae distensae - Vertebral compression fractures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What is (are) Alzheimer disease ?

Output: Alzheimer disease (AD) is a degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. Alzheimer disease currently affects about 5 million people. About 75 percent of Alzheimer disease cases are classified as sporadic, which means they occur in people with no history of the disorder in their family. Although the cause of these cases is unknown, genetic changes are likely to play a role. Virtually all sporadic cases of Alzheimer disease begin after age 65, and the risk of developing this condition increases as a person gets older. AD can be subdivided into two groups based on the age of onset: (1) Early-onset (1%-6% of the cases) which start in people younger than 60- 65 years of age (2) Late-onset, which starts in people older than 65 years old. In about 25% of cases, AD is familial (2 or more people in a family have AD). For more information, please visit GARD's familial Alzheimer disease Web page. </s>


Input: What is (are) Prader-Willi syndrome ?

Output: Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. Other signs and symptoms often include short stature, hypogonadism, developmental delays, cognitive impairment, and distinctive behavioral characteristics such as temper tantrums, stubbornness, and obsessive-compulsive tendencies. PWS is caused by missing or non-working genes on chromosome 15. Most cases are not inherited and occur randomly. Rarely, a genetic change responsible for PWS can be inherited. Management of PWS generally depends on the affected person's age and symptoms. </s>


Input: What are the symptoms of Prader-Willi syndrome ?

Output: What are the signs and symptoms of Prader-Willi syndrome? In infancy, Prader-Willi syndrome (PWS) is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. In later infancy or early childhood, affected children develop an extreme appetite, which leads to overeating and obesity. Other signs and symptoms of PWS may include: mild to moderate intellectual disability sleep abnormalities unusually fair skin underdeveloped genitals delayed or incomplete puberty short stature strabismus scoliosis small hands and feet distinctive facial features such as a narrow forehead, almond-shaped eyes, and a triangular mouth Behavioral problems are common and often include temper tantrums, stubbornness, and obsessive-compulsive tendencies. The Human Phenotype Ontology provides the following list of signs and symptoms for Prader-Willi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Delayed speech and language development 90% Failure to thrive in infancy 90% Generalized hypotonia 90% Growth hormone deficiency 90% Hypogonadotrophic hypogonadism 90% Infertility 90% Motor delay 90% Narrow palm 90% Obesity 90% Polyphagia 90% Poor suck 90% Short foot 90% Short palm 90% Short stature 90% Specific learning disability 90% Cryptorchidism 85% Attention deficit hyperactivity disorder 75% Scrotal hypoplasia 69% Adrenal insufficiency 60% Primary amenorrhea 56% Abnormality of chromosome segregation 50% Abnormality of dental enamel 50% Abnormality of the palate 50% Almond-shaped palpebral fissure 50% Behavioral abnormality 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Clitoral hypoplasia 50% Cognitive impairment 50% Cutaneous photosensitivity 50% Decreased muscle mass 50% Delayed puberty 50% Delayed skeletal maturation 50% Downturned corners of mouth 50% Glomerulopathy 50% Hypoplasia of penis 50% Hypoplasia of the ear cartilage 50% Hypoplastic labia minora 50% Incoordination 50% Intrauterine growth retardation 50% Kyphosis 50% Microcephaly 50% Micropenis 50% Muscular hypotonia 50% Narrow forehead 50% Narrow nasal bridge 50% Nasal speech 50% Recurrent respiratory infections 50% Scoliosis 50% Seizures 50% Single transverse palmar crease 50% Sleep apnea 50% Strabismus 50% Telecanthus 50% Type I diabetes mellitus 50% Hypopigmentation of hair 33% Hypopigmentation of the skin 33% Impaired pain sensation 33% Iris hypopigmentation 33% Oligomenorrhea 33% Ventriculomegaly 33% Type II diabetes mellitus 25% Autism 19% Psychosis 15% Hip dysplasia 10% Carious teeth 7.5% Esotropia 7.5% Frontal upsweep of hair 7.5% Myopia 7.5% Osteopenia 7.5% Osteoporosis 7.5% Poor fine motor coordination 7.5% Radial deviation of finger 7.5% Syndactyly 7.5% Temperature instability 7.5% Upslanted palpebral fissure 7.5% Precocious puberty 4% Abdominal obesity - Clinodactyly - Decreased fetal movement - Dolichocephaly - Generalized hypopigmentation - Hyperinsulinemia - Hypermetropia - Hypoventilation - Poor gross motor coordination - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. </s>


Input: What causes Prader-Willi syndrome ?

Output: What causes Prader-Willi syndrome? Prader-Willi syndrome (PWS) is caused by the loss of active genes in a specific region of chromosome 15. People normally inherit one copy of chromosome 15 from each parent. Some genes on chromosome 15 are only active (or "expressed") on the copy that is inherited from a person's father (the paternal copy). When genes are only active if inherited from a specific parent, it is called genomic imprinting. About 70% of cases of PWS occur when a person is missing specific genes on the long arm of the paternal copy of chromosome 15. This is called a deletion. While there are copies of these same genes on the maternal copy of chromosome 15, the maternal copies of these genes are not expressed.   In about 25% of cases, PWS is due to a person inheriting only 2 maternal copies of chromosome 15, instead of one copy from each parent. This is called maternal uniparental disomy. Rarely (in about 2% of cases), PWS is caused by a rearrangement of chromosome material called a translocation, or by a change (mutation) or other defect that abnormally inactivates genes on the paternal chromosome 15. Each of these genetic changes result in a loss of gene function on part of chromosome 15, likely causing the characteristic features of PWS. </s>


Input: Is Prader-Willi syndrome inherited ?

Output: Is Prader-Willi syndrome inherited? Most cases of Prader-Willi syndrome (PWS) are not inherited and are due to random events during the formation of egg or sperm cells, or in early fetal development. This is usually the case when PWS is caused by a deletion in the paternal chromosome 15, or by maternal uniparental disomy. However in rare cases, a genetic change responsible for PWS can be inherited. The risk to family members of a person with PWS depends on the genetic cause of the condition in the affected person. Because the various genetic causes of PWS are complex, people seeking information about specific risks to themselves or family members are encouraged to speak with a genetics professional. More information about the causes of PWS can be viewed on our Web site here. </s>


Input: How to diagnose Prader-Willi syndrome ?

Output: How is Prader-Willi syndrome diagnosed? There are clinical diagnostic criteria for Prader-Willi syndrome (PWS) that were developed in the past that continue to be useful. These criteria can be viewed on the National Institute of Health's NICHD Web site. However, the current mainstay of a diagnosis when PWS is suspected is a form of genetic testing called DNA methylation testing. This testing can detect abnormal, parent-specific imprinting on the region of chromosome 15 that is responsible for PWS. It determines whether the region is maternally inherited only (i.e., the paternally contributed region is absent) and confirms a diagnosis in more than 99% of affected people. DNA methylation testing is especially important in people who have non-classic features, or are too young to show enough features to make the diagnosis based on signs and symptoms alone. </s>


Input: What are the treatments for Prader-Willi syndrome ?

Output: How might Prader-Willi syndrome be treated? A multidisciplinary team approach is ideal for the treatment of people with Prader-Willi syndrome (PWS). Early diagnosis, early multidisciplinary care, and growth hormone treatment have greatly improved the quality of life of many affected children. In general, management of this condition depends on the affected person's age and symptoms. When a diagnosis of PWS is made, several evaluations are needed to assess the extent of the condition. For example, newborns should be assessed for sucking problems; infants should be assessed for development; and young children should have a vision exam. All males should be evaluated for the presence of cryptorchidism. Other associated conditions for which evaluations may be recommended include hypothyroidism, scoliosis, behavioral problems, psychosis, and respiratory problems and sleep issues. In infants, special feeding techniques may be needed. Young children often need early intervention, including physical therapy for muscle strength and reaching physical milestones, and speech therapy for language issues. Cryptorchidism may resolve on its own but usually requires hormonal and/or surgical treatment. When excessive eating begins and weight percentiles increase, affected children should be on a program of a well-balanced diet, exercise, and close supervision with food. A consultation with a dietitian is recommended. Behavioral problems may be addressed with special behavioral management programs. Serotonin uptake inhibitors have helped many affected teenagers and adults, particularly those with obsessive-compulsive symptoms. Growth hormone treatment can normalize height, increase lean body mass, increase mobility, and decrease fat mass. Controlled trials of growth hormone therapies have shown significant benefit from infancy through adulthood. Benefits may include an increase in language and cognitive skills, and better motor performance. Sex hormone replacement helps to produce secondary sex characteristics (those that develop during puberty) but is somewhat controversial due to possible behavior problems in males, risk of stroke, and hygiene concerns related to menstruation in females. Clinical trials investigating potential treatment options for people with PWS are ongoing. ClinicalTrials.gov provides patients, family members, and members of the public with current information on clinical research studies. People interested in participating in clinical trials are encouraged to visit this site to determine if any trials would be helpful. Use each study's contact information to learn more. You can view a list of clinical trials for PWS here.   To learn more about how to find and participate in a research study, clinical trial, or patient registry, view our Get Involved in Research page.   Additional information on this topic can be found at the links below. Foundation for Prader-Willi Research - Diagnosis & Treatment  GeneReviews - Prader-Willi Syndrome Medscape - Prader-Willi Syndrome </s>