Meacham syndrome is a rare genetic disorder which is characterized by lung, diaphragmatic and genitourinary anomalies. Signs and symptoms
Often people with this condition are born with both underdeveloped lungs and a herniated diaphragm. Urinary symptoms include a horseshoe kidney
Genital symptoms are different according to the biological sex of the baby, genetic males (46,XX) usually have pseudohermaphroditism, ambiguous genitalia, and perineal hypospadias. Genetic females (46,XX) often have septate uterus and duplication of the vagina. In some cases, karyotype is needed to know the biological sex of the baby.Additional symptoms include neoplasm, cryptorchidism, ventricular septal defect, atrial septal defect, hernia, patent ductus arteriosus, Tetralogy of Fallot, and penile hypoplasia. Causes
This condition is caused by an autosomal dominant missense mutation in the WT1 gene, in chromosome 11. This was found through two half-siblings reported by Suri et al. Epidemiology
According to OMIM, only 12 cases have been described in medical literature. == References ==
High caffeine intake may also play a role in fracture risk. Many healthcare organizations also utilize a Fracture Risk Assessment Tool (FRAX) that can estimate a 10-year probability of having an osteoporotic fracture based on an individuals health information and the criteria listed above. Cause
Bone remodeling, or the absorption and resorption of bone, is a natural mechanism that occurs to repair and strengthen bones in the body. However, an imbalance between the resorption and formation of bone occurs as people age, contributing to the development of senile osteoporosis. The aging of cortical and trabecular bones in particular cause the decrease in bone density in the elderly population. Although most of the etiologic considerations regarding senile osteoporosis are not very clear for physicians yet, risk factors of osteoporosis have been identified. These factors include gender, age, hormone imbalances, reduced bone quality, and compromised integrity of bone microarchitecture.Based on the current evidence attached to clinical experimentation, there is some evidence that the pathogenesis of the disease is related to a deficiency of zinc. Such deficiency is known to lead to an increment of endogenous heparin, which is most likely caused by mast cell degranulation, and an increase in the bone resorption (calcium discharge in the bones) reaction of prostaglandin E2, which constrain the formation of more bone mass, making bones more fragile.