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GENATLAS PHENOTYPE
last update : 21-12-2009
Symbol RBNS2
Location 3p14.3
Name Robinow syndrome 2
Corresponding gene WNT5A
Main clinical features
  • mesomelic limb shortening associated with facial and genital abnormalities
  • hypertelorism, large nasal bridge, short upturned nose, midface hypoplasia, mesomelic limb shortening, brachydactyly, clinodactyly, micropenis, and short stature
  • umbilical hernia (32p100) and supernumerary teeth (10p100) were found exclusively in patients with the dominant form
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    multisystem/generalized
    Type malformation
    Remark(s)