Acrodysostosis

Definition

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.

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.

Symptoms

Symptoms of this disorder include:

Exams and Tests

The health care provider can usually diagnose this condition with a physical exam. This may show any of the following:

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

Treatment depends on the symptoms.

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

Support Groups

These groups can provide more information on acrodysostosis:

Outlook (Prognosis)

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

Possible Complications

Acrodysostosis may lead to:

When to Contact a Medical Professional

Call your child's provider if signs acrodystosis develop. Make sure your child's height and weight are measured during each well-child visit. The provider may refer you to:


Review Date: 10/15/2018
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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