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.
Alternative Names
Arkless-Graham; Acrodysplasia; Maroteaux-Malamut
Causes
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
Contact your child's provider if signs of acrodystosis develop. Make sure your child's height and weight are measured during each well-child visit. The provider may refer you to:
A genetic professional for a full evaluation and chromosome studies
A pediatric endocrinologist for management of your child's growth problems
References
Jones KL, Jones MC, del Campo M. Other skeletal dysplasias. In: Jones KL, Jones MC, del Campo M, eds. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2022:600-637.
Review Date:
10/13/2022
Reviewed By:
Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.