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Achondrogenesis

Definition

Achondrogenesis is a rare type of growth hormone deficiency in which there is a defect in the development of bone and cartilage.

Causes, incidence, and risk factors

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%.

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 bone problems associated with the condition.

Treatment

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

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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