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| Definition: |
A defect in the development of bone and cartilage, thought to be inherited.
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| 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
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| 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: 12/2/2001
Reviewed By: Jonathan Fanaroff, M.D., Department of Pediatrics, Rainbow Babies and Children's Hospital, Case Western Reserve University, Cleveland, OH. Review provided by VeriMed Healthcare Network.
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