NCIt related terms : Nevoid Basal Cell Cancer Syndrome;
NCIt 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.;
Alternative definition : NCI-GLOSS: 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.;
Codes from synonyms : CDR0000442897; CDR0000256555; CDR0000322806;