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GENATLAS PHENOTYPE
last update : 18/07/2006
Symbol CRS7C
Location 10q26.13
Name craniosynostosis, syndromatic 7C
Corresponding gene FGFR2
Main clinical features
  • Pfeiffer-like syndrome with any cases of scaphocephaly associated to macrocephaly, severe maxillary retrusion and mild mental retardation
    • Genetic determination autosomal dominant
    Function/system disorder
    Type malformation
    Gene product
    Name fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     K526E in the TK1 portion of the intracellular split tyrosine kinase domain of FGFR2
    Remark(s)