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Definition:
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Achondrogenesis is a rare type of growth hormone deficiency in which there is a defect in the development of bone and cartilage.
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Causes, incidence, and risk factors:
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Achondrogenesis is inherited, which means it is passed down through families.
Some types are known to be recessive, meaning both parents carry the defective gene and the chance for a subsequent child to be affected is about 25%.
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Symptoms:
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- 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:
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X-rays show bone problems associated with the condition.
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Treatment:
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There is no current therapy. Talk to your doctor about care decisions.
Genetic counseling may be appropriate.
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Expectations (prognosis):
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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:
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This condition is often fatal early in life.
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Calling your health care provider:
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This condition is often diagnosed on the first examination of an infant.
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