Achondrogenesis is a rare type of growth hormone deficiency in which there is a defect in the development of bone and cartilage.
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. The chance for a subsequent child to be affected is 25%.
Symptoms may include:
X-rays show bone problems associated with the condition.
There is no current therapy. Talk to your health care provider about care decisions.
You may want to seek genetic counseling.
The outcome is most often very poor. Many infants with achondrogenesis are stillborn or die shortly after birth because of breathing problems related to the abnormally small chest.
This condition is often fatal early in life.
This condition is often diagnosed on the first exam of an infant.
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.