Nevoid Basal Cell Carcinoma Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant genetic syndrome caused by abnormalities in the PTCH and SUFU gene. It is characterized by multiple basal cell carcinomas at a young age, odontogenic keratocysts, and skeletal defects (bifurcated and splayed ribs, fusion of vertebrae, spinal bifida). Patients with this syndrome may also develop medulloblastomas and ovarian fibromas.

**Synonyms:** - Basal Cell Nevus Syndrome - Gorlin Syndrome - Gorlin Syndrome - Gorlin Syndrome - Gorlin syndrome - Gorlin-Goltz Syndrome - Multiple Basal Cell Carcinomas - Nevoid Basal Cell Cancer Syndrome - basal cell nevus syndrome - nevoid basal cell carcinoma syndrome