Description

Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. The incidence of all the craniosynostosis forms is estimated to be between 1/2.000 and 1/2.500 live births. The major part of the syndromic forms (Apert syndrome, Carpenter syndrome, Crouzon syndrome, Muenke syndrome) is caused by mutations in fibroblast transcription factor receptors genes (FGFR). Syndromic forms are inherited in autosomic dominant manner. Mutations in FGFR2 are found to be causative of the Alpert Syndrome.

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