Acrodysplasia

Alternative names
Acrodysostosis; Arkless-Graham; Maroteaux-Malamut

Definition
Acrodysostosis is a congenital (present at birth) deformity of the bones and skeleton, which is usually associated with mental retardation.

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, which means that if one parent passes on the defective gene, the child will be affected. The disorder tends to occur with older parental age and affects children of both sexes.

Symptoms

     
  • mild to moderate growth deficiency  
  • mental deficiency in approximately 80% of affected children  
  • frequent middle ear infections  
  • 2/3 of patients have hearing deficit

Signs and tests

An examination of the infant confirms the symptoms and signs of this disorder:

     
  • widely spaced eyes (hypertelorism)  
  • short head, measured front to back (brachycephaly)  
  • small upturned broad nose with flat nasal bridge  
  • protruding jaw  
  • short arms and legs with deformities of the hands and feet  
  • may have other abnormalities of the skin, genitals, teeth, and skeleton  
  • In the first months of life, X-rays may show spotty calcium deposits (stippling) in bones (especially in the nose), short bones, and other distinctive abnormalities.

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.

Support Groups

Additional resources are available from Little People of America. Call 888-572-2001.

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 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

Genetic counseling is recommended for people with a family history of this disease who are planning a pregnancy.

Johns Hopkins patient information

Last revised: December 4, 2012
by Janet G. Derge, M.D.

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