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Acrodysostosis

Contents of this page:

Illustrations

Anterior skeletal anatomy
Anterior skeletal anatomy

Alternative Names    Return to top

Arkless-Graham; Acrodysplasia; Maroteaux-Malamut

Definition    Return to top

Acrodysostosis is an extremely rare disorder that is present at birth (congenital). People with this condition have problems in the bones of the hands, feet, and nose, and mental retardation.

Causes    Return to top

Most patients 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    Return to top

Exams and Tests    Return to top

A physical exam confirms this disorder.

Findings may include:

In the first months of life, x-rays may show spotty calcium deposits, called stippling, in bones (especially the nose). Infants may also have:

Treatment    Return to top

Treatment depends on the physical and mental problems that occur.

Orthopedic care, early intervention, and special education are recommended.

Outlook (Prognosis)    Return to top

Problems depend on the degree of skeletal involvement and mental retardation. In general, patients do relatively well.

Possible Complications    Return to top

When to Contact a Medical Professional    Return to top

Call your health care provider if your child seems to be growing or developing slowly or abnormally, or if you notice physical abnormalities in your infant.

Prevention    Return to top

Consider genetic counseling to help with diagnosis, testing, and identifying risk.

Update Date: 10/15/2008

Updated by: Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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