Achondrogenesis

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

Causes of Achondrogenesis

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%.

Achondrogenesis Symptoms

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

Tests and Exams

X-rays show bone problems associated with the condition.

Treatment of Achondrogenesis

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

Genetic counseling may be appropriate.

Prognosis (Outlook)

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.

Potential Complications

This condition is often fatal early in life.

When to Contact a Health Professional

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

Review Date: 8/2/2011
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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