scalp-ear-nipple syndrome
Findings
No curated finding names scalp-ear-nipple syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Scalp-ear-nipple syndrome is characterized by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.
Definition from the Mondo Disease Ontology (MONDO:0008404), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
55 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia cutis congenitaHPOHP:0001057
- 29 of 29 reported patients
- Sparse axillary hairHPOHP:0002215
- 9 of 9 reported patients
- Sparse pubic hairHPOHP:0002225
- 9 of 9 reported patients
- HypohidrosisHPOHP:0000966
- 6 of 7 reported patients
- Occasional (5% to 29% of cases)
- Overfolded helixHPOHP:0000396
- 16 of 19 reported patients
- Aplasia/Hypoplasia of the nipplesHPOHP:0006709
- 21 of 26 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 43
- Sparse hairHPOHP:0008070
- Very frequent (80% to 99% of cases)
- Underdeveloped antitragusHPOHP:0011251
- 1 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Underdeveloped tragusHPOHP:0011272
- 1 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KCTD1HGNC:18249
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: scalp-ear-nipple syndrome
- Also called
- Finlay-Marks syndrome