Definition of Cleidocranial dysplasia
Cleidocranial dysplasia: A genetic (inherited) disorder of bone development characterized by:
The disorder is transmitted in an autosomal dominant manner. A parent with the condition has a 50:50 chance that each of their children will have the condition. Boys and girls stand an equal chance of being affected. The gene for the condition has been found on chromosome 6 (specifically, in band p21). The gene is for the transcription factor CBFA1 (core-binding factor alpha subunit 1). Mutations of CBFA1 cause this disorder.
A possible example of this disorder has been found in the skull of a Neanderthal man. (The patient could not be interviewed as to family history).Source: MedTerms™ Medical Dictionary
Last Editorial Review: 6/14/2012
Medical Dictionary Definitions A - Z
Search Medical Dictionary
Digestive Disorders Resources
- Could Your Symptoms Be Lactose Intolerance?
- How to Save Money on Health Care
- Heartburn & Indigestion: Expert Answers