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GENATLAS PHENOTYPE
last update : 02-02-2009
Symbol CRS10
Location 4p16.3
Name craniosynostosis, syndromatic 10
Other name(s) Muenke syndrome
Corresponding gene FGFR3
Main clinical features
  • associated with midface hypoplasia, ptosis, neurosensory deafness, brachydactyly, coned epiphyses, carpal fusion, developmental delay, with a more severe phenotype in females than in males, included isolated unilateral coronal synostosis
    • Genetic determination autosomal dominant
    Related entries Crouzon syndrome with acanthosis nigricans
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name fibroblast growth factor receptor 3
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     mutation Pro250Arg (FGFR3) through an enhancement of FGF binding, exclusive paternal origin and with increasing paternal age
    Remark(s)