Arkless-Graham; Acrodysplasia; Maroteaux-Malamut
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 people 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.
Symptoms of this disorder include:
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:
Two genes have been linked with this condition, and genetic testing may be done.
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, people do relatively well.
Acrodysostosis may lead to:
Call your health care provider if your infant or child does not seem to be growing or developing properly.
Genetic counseling may be helpful.
Linglart, A., Menguy, C., Couvineau, A., et al. Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. New Eng. J. Med. 2011;364: 2218-2226.BACK TO TOP
Review Date: 11/25/2014
Reviewed 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 David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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