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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 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
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 stillborn or die shortly after birth because of breathing problems related to the abnormally small chest.