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).
What is Cleidocranial Dysplasia? Cleidocranial Dysplasia (cleido = collar bone, + cranial = head, + dysplasia = abnormal forming) , also known as Cleidocranial Dysostosis ...
Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary ...
Disease characteristics. Cleidocranial dysplasia (referred to as CCD in this review) is a skeletal dysplasia characterized by delayed closure of the cranial sutures ...
What is cleidocranial dysplasia? What are the symptoms and signs of cleidocranial dysplasia? How common is cleidocranial dysplasia? What genes are related to cleidocranial ...
Important It is possible that the main title of the report Cleidocranial Dysplasia is not the name you expected. Please check the synonyms listing to find the ...