Orthopedics > OCOSH Classification > Bone Diseases > Bone Developmental Diseases > Osteochondrodysplasia > Cleidocranial Dysplasia > CLEIDOCRANIAL DYSPLASIA CCD

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CLEIDOCRANIAL DYSPLASIA CCD

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Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=119600

Description: 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 the fifth fingers, dental anomalies, and often vertebral malformation.

Type: Reference Material
Author/Contact: Not available
Institution: OMIM
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Language: English

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Added: Thu Nov 30 2006