Achondrogenesis
Key points
- Achondrogenesis is a defect in the development of bone and cartilage.
- Signs and tests X-Rays show characteristic bone abnormalities.
- Many infants with achondrogenesis are stillborn or die shortly after birth because of breathing problems related to the abnormally small chest.
- This condition is often diagnosed on the first examination of an infant.
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.
Written and revised by
David Cohen, M.D.
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