Clouston syndrome
Findings
No curated finding names Clouston syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.
Definition from the Mondo Disease Ontology (MONDO:0007510), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
28 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.
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
- Nail dystrophyHPOHP:0008404
- Frequent (30% to 79% of cases)
- Palmoplantar hyperkeratosisHPOHP:0000972
- Frequent (30% to 79% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Frequent (30% to 79% of cases)
- Sparse eyebrowHPOHP:0045075
- Frequent (30% to 79% of cases)
- Sparse eyelashesHPOHP:0000653
- Frequent (30% to 79% of cases)
- Sparse hairHPO
Show the remaining 16
- Brittle scalp hairHPOHP:0004779
- Occasional (5% to 29% of cases)
- Clubbing of fingersHPOHP:0100759
- Occasional (5% to 29% of cases)
- Cobblestone-like hyperkeratosisHPOHP:0031288
- Occasional (5% to 29% of cases)
- Fine hairHPOHP:0002213
- Occasional (5% to 29% of cases)
- Generalized hypotrichosisHPOHP:0004528
- Occasional (5% to 29% of cases)
- Hearing impairmentHPOHP:0000365
- Occasional (5% to 29% of cases)
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.
- GJB6HGNC:4288
- Definitive · ClinGen · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Clouston syndrome
- Also called
- hidrotic ectodermal dysplasia