MedlinePlus Medical Encyclopedia: Achondrogenesis

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Achondrogenesis

Contents of this page:
Definition Causes Symptoms Exams and Tests	Treatment Outlook (Prognosis) Possible Complications When to Contact a Medical Professional

Definition Return to top

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

Causes Return to top

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 Return to top

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

Exams and Tests Return to top

X-rays show bone problems associated with the condition.

Treatment Return to top

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

Genetic counseling may be appropriate.

Outlook (Prognosis) Return to top

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.

Possible Complications Return to top

This condition is often fatal early in life.

When to Contact a Medical Professional Return to top

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

Update Date: 7/26/2007

Updated by: Daniel Rauch, M.D., FAAP., Director, Pediatric Hospitalist Program, New York University School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network.

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