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.

Symptoms of this disorder include:

• Frequent middle ear infections
• Growth problems, short arms and legs
• Hearing problems
• Intellectual disability
• The body doesn't respond to certain hormones, even though hormone levels are normal
• Distinct facial features

Treatment depends on the symptoms.

Hormones, such as growth hormone, may be given. Surgery to treat bone problems may be done.

These groups can provide more information on acrodysostosis:

• National Organization for Rare Disorders -- rarediseases.org/rare-diseases/acrodysostosis
• NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/5724/acrodysostosis

Problems depend on the degree of skeletal involvement and intellectual disability. In general, people do well.

Acrodysostosis may lead to:

• Learning disability
• Arthritis
• Carpal tunnel syndrome
• Worsening range of movement in the spine, elbows, and hands

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

Published Date: October 13, 2022
Published 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.

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.

National Organization for Rare Disorders website. Acrodysostosis. rarediseases.org/rare-diseases/acrodysostosis. Updated August 13, 2014. Accessed November 28, 2022.