The topic Acral Dysostosis with Facial and Genital Abnormalities you are seeking is a synonym, or alternative name, or is closely related to the medical condition Robinow Syndrome.

Quick Summary:

• Robinow Syndrome is a rare genetic disorder that affects approximately 1 in every 500,000 births. It is caused by mutations in the ROR2, WNT5A, or DVL1 genes, which are required for early development of the fetus, especially of the fetal bones
• The signs and symptoms of Robinow Syndrome include bone deformities in many regions of the body, including the face, arms, legs, spine and ribs. Additionally, congenital heart defects and genital abnormalities may be observed in the affected children
• Due to the congenital heart defects observed in Robinow Syndrome, potential complications can include the narrowing of passages followed by laboured breathing. About 15% of the affected individuals have reported developmental delays associated with Robinow Syndrome
• There are 2 forms of Robinow Syndrome. The autosomal recessive form tends to be more severe than the autosomal dominant variant. Having a family history of Robinow Syndrome is the single greatest risk factor for an infant to be born with this disorder
• The diagnosis for Robinow Syndrome is generally made from a physical examination, where characteristic facial features may be noted. An evaluation of the family medical history, followed by genetic testing may aid in confirming the diagnosis. Radiological studies may also be required in order to detect bone deformations
• The treatment for Robinow Syndrome is symptomatic in nature and generally requires a team of healthcare professionals in order for the affected child to lead as normal a life as possible. The prognosis is reportedly good; however, life expectancy may be shortened in individuals with severe congenital heart defects
• Robinow Syndrome is a genetic disorder, and hence, there are currently no ways to prevent the syndrome from taking place. Expecting parents may benefit from genetic counselling and genetic testing of the developing fetal cells may be undertaken (to check for any abnormalities), if a family history of the condition exist

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