Achondrogenesis is a rare type of
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%.
- 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.
There is no current therapy. Talk to your doctor about care decisions.
Genetic counseling may be appropriate.
The outcome is generally very poor. Many infants with achondrogenesis are
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.