Acrodysostosis

A deformity of the bones and skeleton usually associated with mental retardation.

Alternative Names

Arkless-Graham; Acrodysplasia; Maroteaux-Malamut

Causes, incidence, and risk factors

Acrodysostosis is an inherited disease, but the specific gene is unknown at this time. It is inherited in a dominant fashion (no generation skipping), and both sexes are affected. The disorder tends to occur with older parental age.

Signs and tests

Examination of the infant confirms the symptoms and signs of this disorder. In the first months of life X-rays may show spotty calcium deposits (stippling) in bones.

Treatment

There is no treatment or cure for this syndrome. The child should be followed by a medical professional, and referral to a geneticist (specialist in inherited diseases) should be recommended.

Expectations (prognosis)

Problems are relative to the degree of skeletal involvement and mental retardation . In general, patients do relatively well.

Complications

  • carpal tunnel syndrome
  • arthritis
  • progressive limitation of range of movement of spine, elbows, and hands may occur
  • Calling your health care provider

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

    Prevention

    There are no specific preventive measures for acrodysostosis. Consultation with an orthopedist and podiatrist may prevent progression of skeletal problems by appropriate braces, shoes, and early surgery.

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