Craniofrontonasal dysplasia

Craniofrontonasal dysplasia
Other namesCraniofrontonasal dysostosis
This condition is inherited in an X-linked dominant manner. However, unlike most X-linked conditions, it is more severe in females, due to cell–cell interaction mechanisms involving the responsible gene (EFNB1) when it is present in only some cells (mosaic).
SpecialtyMedical genetics 

Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene (EFNB1). Phenotypic expression varies greatly amongst affected individuals, where females are more commonly and generally more severely affected than males. Common physical malformations are: craniosynostosis of the coronal suture(s), orbital hypertelorism, bifid nasal tip, dry frizzy curled hair, longitudinal ridging and/or splitting of the nails, and facial asymmetry.

The diagnosis CFND is determined by the presence of a mutation in the EFNB1 gene. Physical characteristics may play a supportive role in establishing the diagnosis.

The treatment is always surgical and is based on each patients specific phenotypic presentation.

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