font size

Definition of Cleidocranial dysplasia

Cleidocranial dysplasia: A genetic (inherited) disorder of bone development characterized by:

  1. Absent or incompletely formed collar bones (the "cleido-" part refers to the clavicles, the collar bones) The child with this disorder can bring its shoulders together or nearly so; and
  2. Typical cranial and facial abnormalities with square skull, late closure of the sutures of the skull, late closure of the fontanels (the soft spots), low nasal bridge, delayed eruption of the teeth, abnormal permanent teeth, etc.

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
http://www.medicinenet.com/script/main/art.asp?articlekey=6549
Last Editorial Review: 6/14/2012

Drug Medical Dictionary of Terms by Letter

Top RxList Drug News

GI Disorders

Get the latest treatment options.

advertisement
advertisement
Use Pill Finder Find it Now See Interactions

Pill Identifier on RxList

  • quick, easy,
    pill identification

Find a Local Pharmacy

  • including 24 hour, pharmacies

Interaction Checker

  • Check potential drug interactions
Search the Medical Dictionary for Health Definitions & Medical Abbreviations

NIH talks about Ebola on WebMD