Achondrogenesis

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What is Achondrogenesis?

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

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 & Signs

• Very short trunk, arms, legs and neck
• Head appears large in relation to the trunk
• Small lower jaw
• Narrow chest

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Exams and Tests

X-rays show bone problems associated with the condition.

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Treatments

There is no current therapy. Talk to your doctor about care decisions.

Genetic counseling may be appropriate.

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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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Possible Complications

This condition is often fatal early in life.

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When to contact a medical professional

This condition is often diagnosed on the first examination of an infant.