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 )

Relationships
is a type of: autosomal dominant disease ectodermal dysplasia