scalp-ear-nipple syndrome (DOID:0111550)
Alliance: disease page
Synonyms: Finlay-Marks syndrome; hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples; Sen Syndrome; SENS
Alt IDs: OMIM:181270, MESH:C536623, ORDO:2036, UMLS_CUI:C1867020
Definition: An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.2.