Acrodysostosis is an extremely rare disorder that is present at birth (congenital). People with this condition have problems in the bones of the hands, feet, and nose, and mental retardation.
Most patients with acrodysostosis have no family history of the disease. However, sometimes the condition is passed down from parent to child. Parents with the condition have a 1 in 2 chance of passing the disorder to their children.
There is a slightly greater risk with fathers who are older.
A physical exam confirms 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:
Treatment depends on the physical and mental problems that occur.
Orthopedic care, 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.
Consider genetic counseling to help with diagnosis, testing, and identifying risk.
Arkless-Graham; Acrodysplasia; Maroteaux-Malamut
Reviewed by: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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