| Description: |
FGFR3 MUENKE CRANIOSYNOSTOSIS SYNDROME. Craniosynostosis is an abnormal shape of the head, caused by premature fusion of one or more of the cranial sutures. Six craniosynostosis syndromes are associated with mutations in the fibroblast growth factor receptor (FGFR) genes: Muenke, Pfeiffer, Apert, Crouzon, Beare-Stevenson, and Jackson-Weiss syndromes. All are inherited in an autosomal dominant fashion. Clinical manifestations such as facial features and hand and foot anomalies, in addition to craniosynostosis, can support a diagnosis of a particular syndrome. Muenke syndrome is the exception to this rule because it is defined by a single mutation in the FGFR3 gene and associated with a wide spectrum of manifestations. Therefore, we recommend testing for this mutation first, prior to testing of the FGFR2 and FGFR1 genes. |
