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GENATLAS PHENOTYPE
last update : 23-08-2010
Symbol BSCGS2
Location 10q26
Name Beare-Stevenson cutis gyrata syndrome 3
Other name(s) Beare-Stevenson-like syndrome
Corresponding gene FGFR3
Main clinical features
  • characterized by craniosynostosis, (severe premature calvarial synostosis), with cutis gyrata, acanthosis nigricans, digital anomalies, urogenital abnormalities, early death
    • Genetic determination autosomal dominant
    Function/system disorder dermatology
    Type disease
    Gene product
    Name fibroblast growth factor receptor 3 (FGFR3)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     P250R substitution
    Remark(s)