palmoplantar keratoderma-sclerodactyly syndrome
MONDO:0008416Mondo
Findings
No curated finding names palmoplantar keratoderma-sclerodactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
11 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.
- Abnormal nail morphologyHPOHP:0001597
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- Lack of skin elasticityHPOHP:0100679
- Very frequent (80% to 99% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- SclerodactylyHPOHP:0011838
- Very frequent (80% to 99% of cases)
- Small nailHPOHP:0001792
- Very frequent (80% to 99% of cases)
- Squamous cell carcinoma of the skinHPOHP:0006739
- 15% of reported patients
- AdermatoglyphiaHPOHP:0007455
- Congenital palmoplantar hyperkeratosisHPOHP:0007545
- Congenital onset
- Nail dystrophyHPOHP:0008404
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.
- SMARCAD1HGNC:18398
- Moderate · G2P · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: palmoplantar keratoderma-sclerodactyly syndrome
- Also called
- Huriez syndromepalmoplantar hyperkeratosis-sclerodactyly syndromeScleroatrophic syndromeSclerotylosis