Scaphocephaly, Maxillary Retrusion, And Mental Retardation

A number sign (#) is used with this entry because this form of craniosynostosis is caused by mutation in the FGFR2 gene (176943) on chromosome 10q26.

Clinical Features

McGillivray et al. (2005) reported a 3-generation family in which 11 members showed autosomal dominant inheritance of a distinct craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. The authors noted that the absence of shallow orbits and ocular proptosis in this kindred excluded the diagnosis of Crouzon syndrome (123500).

Molecular Genetics

In a 3-generation family with a scaphocephaly syndrome, McGillivray et al. (2005) screened for mutations in genes known to be associated with craniosynostosis and identified a mutation in the FGFR2 gene (176943.0034). McGillivray et al. (2005) stated that this was the first report of a pathogenic mutation in a craniosynostosis syndrome manifesting predominantly as scaphocephaly.