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GENATLAS PHENOTYPE
last update : 29/09/2005
Symbol CRS5B
Location 4p16.3
Name craniosynostosis, syndromatic 5B
Corresponding gene FGFR3
Other symbol(s) FCANTK
Main clinical features
  • Crouzon syndrome and atypical acanthosis nigricans, with choanal atresia and hydrocephalus
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    congenital malformation
    dermatology
    Type disease
    Gene product
    Name fibroblast growth factor receptor 3 (FGFR3)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     Ala391Glu
    Remark(s)