Health Care Encyclopedia
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AchondrogenesisDefinition: 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.
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