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GENATLAS PHENOTYPE
last update : 02-02-2009
Symbol CRSCNS
Location 4p16.3
Name craniosynostosis, non syndromatic
Corresponding gene FGFR3
Main clinical features
  • unilateral or bilateral coronal synostosis including isolated anterior synostotic plagiocephaly
    • Genetic determination autosomal dominant
    Related entries Muenke syndrome, Crouzon syndrome with acanthosis nigricans
    Function/system disorder osteo-articular
    congenital malformation
    Type disease
    Gene product
    Name fibroblast growth factor receptor 3, (FGFR3)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function P250R
    Remark(s)