question:  Cri du chat syndrome Cat cry syndrome 5p minus syndrome Chromosome 5p deletion syndrome Cat cry syndrome 5p minus syndrome Chromosome 5p deletion syndrome 5p- syndrome Monosomy 5p 5p deletion syndrome Chromosome 5p- syndrome See More Summary Cri du chat syndrome , also known as 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm) of . [1] [2] Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size, low birth weight, weak muscle tone in infancy, and distinctive facial features. [2] While cri du chat syndrome is a genetic condition, most cases are not inherited . [1] [2] Symptoms This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom. Showing of Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Cat cry cat-like cry 0200046 Epicanthus Eye folds Prominent eye folds 0000286 High pitched voice 0001620 Intellectual disability , severe Early and severe mental retardation Mental retardation, severe Severe mental retardation 0010864 Low-set, posteriorly rotated ears 0000368 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference 0000252 Microretrognathia 0000308 Muscular hypotonia Low or weak muscle tone 0001252 Round face Circular face Round facial appearance Round facial shape 0000311 Severe global developmental delay 0011344 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge 0000431 30%-79% of people have these symptoms Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 High palate Elevated palate Increased palatal height 0000218 Hypertelorism Wide-set eyes Widely spaced eyes 0000316 Intrauterine growth retardation Prenatal growth deficiency Prenatal growth retardation 0001511 Scoliosis Abnormal curving of the spine 0002650 Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature 0004322 Small hand Disproportionately small hands 0200055 5%-29% of people have these symptoms Abnormality of bone mineral density 0004348 Abnormality of cardiovascular system morphology 0030680 Finger syndactyly 0006101 Inguinal hernia 0000023 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Preauricular skin tag 0000384 Recurrent fractures Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Varying degree of multiple fractures 0002757 Percent of people who have these symptoms is not available through HPO Abnormality of the kidney Abnormal kidney 0000077 Abnormality of the pinna Abnormally shaped ears Auricular malformation Deformed ears Malformed ears Simple ears 0000377 Aggressive behavior Aggression Aggressive behaviour Aggressiveness 0000718 Anterior open-bite malocclusion Absence of overlap of anterior upper and lower teeth Gap between upper and lower front teeth when biting 0009102 Anxiety Excessive, persistent worry and fear 0000739 Autism 0000717 Bifid uvula 0000193 Cataract Clouding of the lens of the eye Cloudy lens 0000518 Conspicuously happy disposition 0100024 Cryptorchidism Undescended testes Undescended testis 0000028 Delayed speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay 0000750 Diastasis recti Gap between large left and right abdominal muscles 0001540 Difficulty walking Difficulty in walking 0002355 Downturned corners of mouth Downturned corners of the mouth Downturned mouth 0002714 Echolalia 0010529 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face 0000324 Facial grimacing 0000273 Feeding difficulties in infancy 0008872 Functional respiratory abnormality 0002795 Gastroesophageal reflux Acid reflux Acid reflux disease Heartburn 0002020 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth 0001510 Hearing impairment Deafness Hearing defect 0000365 High axial triradius 0001042 Hyperactivity More active than typical 0000752 Hyperacusis 0010780 Hypertonia 0001276 Hypospadias 0000047 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation 0001249 Long face Elongation of face Increased height of face Increased length of face Vertical elongation of face Vertical enlargement of face Vertical overgrowth of face 0000276 Low-set ears Low set ears Lowset ears 0000369 Metatarsus adductus Front half of foot turns inward 0001840 Myopia Close sighted Near sighted Near sightedness Nearsightedness 0000545 Narrow face Decreased breadth of face Decreased width of face 0000275 Neonatal hypotonia Low muscle tone, in neonatal onset 0001319 Oppositional defiant disorder 0010865 Optic atrophy 0000648 Oral cleft Cleft of the mouth 0000202 Overfriendliness 0100025 Pes planus Flat feet Flat foot 0001763 Premature graying of hair Early graying Premature graying Premature greying Premature hair graying 0002216 Prominent supraorbital ridges Prominent brow 0000336 Recurrent infections in infancy and early childhood 0005437 Self-mutilation Deliberate self-harm Self mutilation 0000742 Short attention span Poor attention span Problem paying attention 0000736 Short metacarpal Shortened long bone of hand 0010049 Short metatarsal Short long bone of foot 0010743 Short philtrum 0000322 Single transverse palmar crease 0000954 Small for gestational age Birth weight less than 10th percentile Low birth weight 0001518 Sporadic No previous family history 0003745 Stenosis of the external auditory canal Narrowing of passageway from outer ear to middle ear 0000402 Stereotypy Repetitive movements Repetitive or self-injurious behavior 0000733 Strabismus Cross-eyed Squint Squint eyes 0000486 Syndactyly Webbed fingers or toes 0001159 Thick lower lip vermilion Increased volume of lower lip Plump lower lip Prominent lower lip 0000179 Showing of Cause Cri du chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals but studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions.[2] The signs and symptoms of cri du chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri du chat syndrome.[2] Inheritance Most cases of cri du chat syndrome are not inherited . The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most affected individuals do not have a history of the disorder in their family. [2] About 10 percent of people with cri du chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation , in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri du chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5. This results in the intellectual disability and other health problems characteristic of the disorder. [2] Diagnosis Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person's medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. 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. Treatment While there is no specific treatment available for cri du chat syndrome , early intervention is recommended in the areas of physical therapy (achieving physical and motor milestones such as sitting and standing up), communication (speech therapy, sign language instruction), behavioral modification (for hyperactivity, short attention span, aggression), and learning (special education). [3] Because symptoms may vary from individual to individual, we recommend discussing these options with a health care professional to develop a personalized plan for therapy. Prognosis Most individuals with cri du chat syndrome have a normal life expectancy. A small number of children with this condition are born with serious organ defects and other life-threatening medical problems. These children may have a worse prognosis . [1] In these cases, it is best to obtain information about prognosis from the affected person's physician. General information about prognosis for cri du chat syndrome can be accessed through Medscape Reference. Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. If you can't find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference. 