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;
Origin ID : 7530653;
Automatic exact mappings (from CISMeF team)
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.
