Acrodysostosis is an extremely rare disorder that is present at birth (congenital). It leads to problems with the bones of the hands, feet, and nose, and intellectual disability.
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.
Your health care provider can usually diagnose this condition with a physical exam.
This may show:
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 symptoms.
Orthopedic care, early intervention, and special education are recommended.
Problems depend on the degree of skeletal involvement and intellectual disability. In general, patients do relatively well.
Call your health care provider if your infant or child does not seem to be growing or developing properly.
Genetic counseling may be helpful.
Arkless-Graham; Acrodysplasia; Maroteaux-Malamut
Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by A.D.A.M. Health Solutions, Ebix, Inc., Editorial Team: David Zieve, MD, MHA, David R. Eltz, and Stephanie Slon.
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