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GENATLAS PHENOTYPE
last update : 11-10-2016
Symbol NBCCS3
Location 10q24.32
Name nevoid basal cell carcinoma syndrome 3
Other name(s) Gorlin syndrome 2
Corresponding gene SUFU
Main clinical features
  • agenesis of corpus callosum
  • in infancy typical congenital skeletal malformations of spine, ribs and craniofacial morphology should lead to suspicion of BCNS
  • several major pathognomonic signs as BCC, jaw cysts, palmar and plantar pits, calcification of the fax cerebri and ovarian fibromas are age-dependant and usually develop after puberty
  • Genetic determination not applicable
    Function/system disorder dermatology
    Type disease
    Remark(s)