The basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by Koch et al., 2002).
For a discussion of genetic heterogeneity of BCNS, see BCNS1 (109400). [from OMIM]
- MedGen UID:
- 1841087
- •Concept ID:
- C5830451
- •
- Neoplastic Process