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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
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.