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GENATLAS PHENOTYPE
last update : 05-05-2010
Symbol CRS5A
Location 10q26.13
Name craniosynostosis, syndromatic 5A
Other name(s)
  • Crouzon craniofacial dysostosis
  • Crouzon syndrome
    • Corresponding gene FGFR2
    Other symbol(s) CRFD, CRS5, CFD1
    Main clinical features
  • craniosynostosis causing secondary alterations of the facial bones and facial structure including hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism
    • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    congenital malformation
    Type disease
    Gene product
    Name fibroblast growth factor receptor 2 (FGFR2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     C342Y mostly frequent mutation
    Remark(s) advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome and mutations are mostly of paternal origin