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Nevoid basal cell carcinoma syndrome
Pronunciation
Definition 1
A genetic condition that causes unusual facial features and disorders of the skin, bones, nervous system, eyes, and endocrine glands. People with this syndrome have a higher risk of basal cell carcinoma. Also called basal cell nevus syndrome and Gorlin syndrome. (NCI Dictionary)
Definition 2
An autosomal dominant genetic syndrome caused by abnormalities in the PTCH 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. (NCI Thesaurus)
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