Term Name: | scalp-ear-nipple syndrome |
---|---|
Synonyms: | Finlay-Marks syndrome, hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples, Sen Syndrome, SENS |
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. |
Ontology: | Human Disease [DOID:0111550] ( DOID:0111550 ) |