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Achondroplasia - Overview

Definition of Achondroplasia:

Achondroplasia is a disorder of bone growth that causes the most common type of growth hormone deficiency.

Causes, incidence, and risk factors:

Achondroplasia is one of a group of disorders called chondrodystrophies or osteochondrodysplasias.

Achondroplasia may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from one parent, the child will have the disorder. If one parent has achondroplasia, the infant has a 50% chance of inheriting the disorder. If both parents have the condition, the infant's chances of being affected increase to 75%.

However, most cases appear as spontaneous mutations. This means that two parents without achondroplasia may give birth to a baby with the condition.

  • Reviewed last on: 10/11/2007
  • Deirdre O’Reilly, MD, MPH, Neonatologist, Division of Newborn Medicine, Children’s Hospital Boston and Instructor in Pediatrics, Harvard Medical School, Boston, Massachusetts. Review provided by VeriMed Healthcare Network.
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