Achondrogenesis

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Definition

Achondrogenesis is a rare type of growth hormone deficiency in which there is a defect in the development of bone and cartilage.

Alternative Names

Causes, incidence, and risk factors

Achondrogenesis is inherited, which means it is passed down through families.

Some types are known to be recessive, meaning both parents carry the defective gene and the chance for a subsequent child to be affected is about 25%.

Symptoms

  • Very short trunk, arms, legs, and neck
  • Head appears large in relation to the trunk
  • Small lower jaw
  • Narrow chest

Signs and tests

X-rays show bone problems associated with the condition.

Treatment

There is no current therapy. Talk to your doctor about care decisions.

Genetic counseling may be appropriate.

Support Groups

Expectations (prognosis)

The outcome is generally very poor. Many infants with achondrogenesis are

or die shortly after birth because of related to the abnormally small chest.

Complications

This condition is often fatal early in life.

Calling your health care provider

This condition is often diagnosed on the first examination of an infant.

Prevention

References

Version Info

  • Last reviewed on 8/2/2011
  • Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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This page was last updated: April 14, 2014

         
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