Craniocleidodysostosis
A genetic (inherited) disorder of bone development characterized by: {{}}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. 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. 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).
* * *
SYN: cleidocranial dysostosis. [cranio- + G. kleis, clavicle, + dysostosis]

Medical dictionary. 2011.

Look at other dictionaries:

  • Cranio- (prefix) — Referring to the cranium, the top portion of the skull, the bony vault that protects the brain. Cranio contributes to many terms including craniocleidodysostosis, craniology, craniopharyngioma, craniotomy, etc …   Medical dictionary

  • dysostosis — SYN: dysosteogenesis. [dys + G. osteon, bone, + osis, condition] acrofacial d. mandibulofacial d. associated with malformations of the extremities such as defective radius and thumbs, and radioulnar synostosis. SEE ALSO: Treacher Collins syndrome …   Medical dictionary

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”