Basal cell nevus syndrome (BCNS) is a rare autosomal dominant disorder that predisposes to tumor formation especially basal cell carcinomas associated with developmental abnormalities such as odontogenic keratocyst of the mandible, calcification of the falx cerebri, multiple nevi, and skeletal anomalies. The genetic basis of the syndrome is defective hedgehog signaling pathway.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2D Phakomatoses or hamartoneoplastic syndromes
H00895 Basal cell nevus syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06501 HH signaling
H00895 Basal cell nevus syndrome
