" /> Craniofrontonasal dysplasia - CISMeF





Preferred Label : Craniofrontonasal dysplasia;

ICD-11 definition : Craniofrontonasal dysplasia (associated with mutations in the EFBN1) is a syndromic very rare X-linked form of craniofacial abnormalities with coronal synostosis. Craniofacial dysmorphology is characterized by hypertelorism, broad nose and bifid nasal tip, dry frizzy curled hair, facial asymmetry / facial cleft. High palate, digital webbing possible.;

ICD-11 synonym : Gollop syndrome;

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Craniofrontonasal dysplasia (associated with mutations in the EFBN1) is a syndromic very rare X-linked form of craniofacial abnormalities with coronal synostosis. Craniofacial dysmorphology is characterized by hypertelorism, broad nose and bifid nasal tip, dry frizzy curled hair, facial asymmetry / facial cleft. High palate, digital webbing possible.

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29/07/2025


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