Cleidocranial Dysplasia (Subscribe)  

disorder of ossification/development of midline bones autosomal dominant, 33% sporadic skull cranial dysplasia Wormian bones basilar invagination clavicles aplasia / hypoplasia, usually lateral portion other skeletal abnormalities small, high scapula wide symphysis pubis acro-osteolysis

Cleidocranial dysostosis or Cleidocranial dysplasia is a hereditary congenital abnormality of humans due to haploinsufficiency caused by mutations in the CBFA1 gene. It has one or more of these features:- The collarbones are partly or completely missing. If they are completely missing, the shoulders can touch each other in front of...

CLEIDOCRANIAL DYSOSTOSIS; CLCD CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED this disorder can be caused by mutation in the transcription factor CBFA1 (RUNX2; 600211). Features include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of...

Discussion: - autosomal dominant proportionate dwarfism that affects bones formed intramembranously (eg. facial bones, cranium, & clavicles); - dislocations of hips, knees, and the radial heads may occur; - clavicle: ...

"A rare autosomal dominant condition in which there is defective ossification of the cranial bones with large fontanels and delayed closing of the sutures, complete or partial absence of the clavicles, wide pubic symphysis, short middle phalanges of the fifth fingers, and dental and vertebral anomalies. (From Dorland, 27th ed)" 3...

intrauterine premature fusion (craniosynostosis) of all sutures except SQUAMOSAL
* may be hereditary in Crouzon syndrome

Cleido-cranial dysostosis is an abnormality, primarily of membrane bone. It is inherited and is autosomal dominant. The name of the condition indicates those bones that comprise significant or total membrane bone components. Other bones show changes including delayed maturity.