Conditions / Syndrome
scalp-ear-nipple syndrome
info · Syndrome
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 18
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.
Signs and symptoms
- Aplasia cutis congenita
- Sparse axillary hair
- Sparse pubic hair
- Hypohidrosis
- Overfolded helix
- Aplasia/Hypoplasia of the nipples
- Fine hair
- Anteverted ears
- Nail dysplasia
- 3-4 finger cutaneous syndactyly
Also known as: Finlay-Marks syndrome; SENS; Sen Syndrome; hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples