Achondrogenesis

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.

Support Groups:

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.

Prevention:

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.

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