Catalog

Craniofrontonasal dysplasia

No MMS code

Link to WHO Definition

Craniofrontonasal dysplasia – http://id.who.int/icd/entity/7530653

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 characterised by hypertelorism, broad nose and bifid nasal tip, dry frizzy curled hair, facial asymmetry / facial cleft. High palate, digital webbing possible.