Schöpf-Schulz-Passarge syndrome
Findings
No curated finding names Schöpf-Schulz-Passarge syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.
Definition from the Mondo Disease Ontology (MONDO:0009145), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
17 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.
- Dry skinHPOHP:0000958
- 1 of 1 reported patient
- HyperkeratosisHPOHP:0000962
- 1 of 1 reported patient
- HypodontiaHPOHP:0000668
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Multiple eyelid margin cystsHPOHP:0034946
- 1 of 1 reported patient
- Nail dystrophyHPOHP:0008404
- 1 of 1 reported patient
- Palmoplantar keratodermaHPOHP:0000982
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Show the remaining 5
- Premature loss of primary teethHPOHP:0006323
- Frequent (30% to 79% of cases)
- Basal cell carcinomaHPOHP:0002671
- Occasional (5% to 29% of cases)
- Bird-like faciesHPOHP:0000320
- Occasional (5% to 29% of cases)
- Ovarian neoplasmHPOHP:0100615
- Occasional (5% to 29% of cases)
- Squamous cell carcinomaHPOHP:0002860
- 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.
- WNT10AHGNC:13829
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: Schöpf-Schulz-Passarge syndrome
- Also called
- eccrine tumors-ectodermal dysplasiakeratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndromepalmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndromepalmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndromeSSPS