Definition

Achondrogenesis is a defect in the development of bone and cartilage. It is thought to be inherited.

Causes, incidence, and risk factors

Achondrogenesis is a rare type of dwarfism. It is usually fatal at birth or soon after.

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 characteristic bone abnormalities.

Treatment

No treatment is available. Genetic counseling may be appropriate.

Expectations (prognosis)

The outcome is generally very poor. Many infants with achondrogenesis are stillborn or die shortly after birth because of breathing problems 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.

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Review Date:8/23/2005
Reviewed By: John Goldenring, MD, MPH, Department of Pediatrics, Children's Hospital, San Diego, CA. Review provided by VeriMed Healthcare Network.