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Acrodysostosis is an extremely rare congenital (present at birth) disorder marked by problems in the bones of the hands, feet, and nose, and mental retardation.
Most patients with acrodysostosis have no family history of the disease. But sometimes the condition is passed down from parent to child as an autosomal dominant trait. That means parents with the condition have a 1 in 2 chance of passing the disorder on to their children.
A physical exam confirms the symptoms and signs of this disorder.
Findings may include:
In the first months of life, x-rays may show spotty calcium deposits, called stippling, in bones (especially the nose). Infants may also have short bones, early growth of bones of the hands and feet, shortening of the forearm bones near the wrist, and abnormally short fingers and toes (brachydactyly).
Treatment depends on what physical and cognitive problems are present.
Orthopedic care as well as early intervention and special education are recommended.
Problems depend on the degree of skeletal involvement and mental retardation. In general, patients do relatively well.
Call your health care provider if your child seems to be growing or developing slowly or abnormally, or if you notice physical abnormalities in your infant.
Genetic counseling should be considered to help with diagnosis, testing and risk assessment.
Review Date:12/11/2006
Reviewed By:Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.
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