Learn About Acrodysostosis

What is the definition of Acrodysostosis?

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.

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What are the alternative names for Acrodysostosis?

Arkless-Graham; Acrodysplasia; Maroteaux-Malamut

What are the causes of Acrodysostosis?

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.

What are the symptoms of Acrodysostosis?

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
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What are the current treatments for Acrodysostosis?

Treatment depends on the symptoms.

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

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What are the support groups for Acrodysostosis?

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
What is the outlook (prognosis) for Acrodysostosis?

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

What are the possible complications of Acrodysostosis?

Acrodysostosis may lead to:

  • Learning disability
  • Arthritis
  • Carpal tunnel syndrome
  • Worsening range of movement in the spine, elbows, and hands
When should I contact a medical professional for Acrodysostosis?

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
How do I prevent Acrodysostosis?

Anterior skeletal anatomy
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Who are the sources who wrote this article ?

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.

What are the references for this article ?

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.