" /> Craniofrontonasal syndrome - CISMeF





Preferred Label : Craniofrontonasal syndrome;

Symbol : CFNS;

CISMeF acronym : CFND; CFNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CFND; Craniofrontonasal dysplasia; Craniofrontonasal dysostosis;

Description : Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism (Twigg et al., 2004; Wieland et al., 2004).;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the ephrin B1 gene (EFNB1, 300035.0001);

Prefixed ID : #304110;

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29/07/2025


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