scalp-ear-nipple syndrome

Term ID

DOID:0111550

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. (2)

References

• GARD:159
• MESH:C536623
• MIM:181270
• ORDO:2036
• SNOMEDCT_US_2023_03_01:721888002
• UMLS_CUI:C1867020

Ontology

Human Disease   ( DOID:0111550 )