Version: 8.0.0
Date: Tue Jan 28 2025
scalp-ear-nipple syndrome
DOID:0111550
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

scalp-ear-nipple syndrome

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.
Synonyms
  • Finlay-Marks syndrome
  • hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples
Cross References
Parent Terms
Child Terms
None
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