Craniofrontonasal dysplasia

Craniofrontonasal dysplasia, also called craniofrontonasal syndrome, craniofrontonasal dysostosis or CFND, is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene, EFNB1. How it shows varies greatly between affected individuals, and females are more commonly and generally more severely affected than males. Common physical malformations are craniosynostosis of the coronal suture or sutures, orbital hypertelorism, a bifid nasal tip, dry frizzy curled hair, longitudinal ridging or splitting of the nails, and facial asymmetry. Diagnosis rests on finding a mutation in EFNB1, with physical characteristics playing a supportive role, and treatment is surgical, tailored to each patient. This record is not medical advice.