Medical Information - Craniofrontonasal Syndrome

CRANIOFRONTONASAL syndrome (CFNS) is one of the craniofacial conditions that fall into the group called Craniofacial Dysostosis syndromes. Alternative names are Craniofrontonasal Dysplasia and Craniofrontonasal Dysostosis. It was first recognised as a distinct condition in 1979 by Professor Michael Cohen who worked in Canada.

Craniofrontonasal syndrome predominantly affects the head, face and limbs and presents with a number of typical features which require the child to enter a co-ordinated programme of care involving many different clinical specialities integrating the various expertises. The condition generally affects females more frequently and more severely than males. Very often the condition is not diagnosed in males unless they are a member of a family known to have the condition or the father of a daughter with the condition.

(all features may not be present in every instance)

• a combination of fusion of one or more of the coronal sutures, wide spaced eyes and a shallow cleft in the end of a broad nose;
• faint longitudinal slits in the nails and thick curly hair;
• webbed neck and sloping shoulders (sometimes associated with restricted movement); and
• in a small number of cases, mild learning difficulties, cleft lip, cleft palate and extra thumbs or big toes.

(all features may not be present in every instance)

• wide spaced eyes; and
• very rarely the remainder of the features listed above for girls.

The skull tends to be short from front to back referred to descriptively as Brachycephaly (coronal sutures).

• View the Craniofrontonasal Syndrome information leaflet (pdf)
• Contact one of the UK National Craniofacial Units