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.
Arkless-Graham; Acrodysplasia; Maroteaux-Malamut
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.
Worsening range of movement in the spine, elbows, and hands
When to Contact a Medical Professional
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.
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.