craniofrontonasal dysplasia

Craniofrontonasal Dysplasia is a craniofacial condition caused by a mutation on the EFNB1 gene which is located on the X chromosome. This gene mutation can be inherited from a parent or the result of a sporadic mutation. The rate of occurrence is approximately 1 in 120,000 births.

Craniofrontonasal Dysplasia is also known as Craniofrontonasal Syndrome, CFNS, and CFND. Common features of people with CFND include wide set eyes, a shallow cleft in the nose, and coronal craniosynostosis (premature fusing of skull suture). CFND typically affects girls more severely than boys. You can find more detailed information on CFND features, symptoms, and treatment in the medical resources section of this site.