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GENATLAS PHENOTYPE
last update : 11-10-2016
Symbol BCNS
Location 1p34.1
Name basal cell nevus syndrome
Corresponding gene PTCH2
Other symbol(s) NBCCS1
Main clinical features
  • multiple nevoid basal-cell epitheliomas, jaw cysts, and bifid rib
  • also associated to medulloblastoma, astrocytoma and hydrocephalus; other features included pits of the palms and soles
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    neoplasia
    Type disease
    Remark(s)