" /> Cleidocranial dysplasia 1 - CISMeF





Preferred Label : Cleidocranial dysplasia 1;

Symbol : CLCD1;

CISMeF acronym : CCD; CLCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cleidocranial dysostosis; CLCD; CCD;

Included titles and symbols : Cleidocranial dysplasia 1, forme fruste, dental anomalies only; Cleidocranial dysplasia 1, forme fruste, with brachydactyly;

Description : The main clinical features of CCD 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. See 168550 for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (265800) and mandibuloacral dysplasia (248370) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis. Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the runt-related transcription factor 2 gene (RUNX2, 600211.0001);

Prefixed ID : #119600;

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25/07/2025


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