| Definition: |
Achondrogenesis is a defect in the development of bone and cartilage. It is 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.
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| 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.
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| Treatment: |
No treatment is available. Genetic counseling may be appropriate.
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| 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.
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| Complications: |
This condition is often fatal early in life.
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| Calling your health care provider: |
This condition is often diagnosed on the first examination of an infant.
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