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A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 8 | Small nail, Narrow nail, Thin nail |
Eyes | 1 | Abnormality of the eye |
WNT10A function has not been fully characterized.
Schöpf-Schulz-Passarge syndrome is associated with mutations in the WNT10A gene on chromosome 2.
Genetic testing for WNT10A is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Schöpf-Schulz-Passarge syndrome has been reported in the published literature.
Phenotype severity distribution: 8 always present features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Schöpf-Schulz-Passarge syndrome.
184 publications have been identified in PubMed for Schöpf-Schulz-Passarge syndrome. Research spans Review / Meta-Analysis (38%), Case Report / Case Series (28%), and Basic Science / Preclinical (13%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 57 | 38% |
Patient case studies | 42 | 28% |
Laboratory research | 20 | 13% |
Disease patterns and progression | 13 | 9% |
Testing and diagnosis research | 7 | 5% |
Clinical study results | 6 | 4% |
New treatment approaches | 4 | 3% |
Other research | 3 | 2% |
Kobayashi S (2026). [PMID: 41786542](https://pubmed.ncbi.nlm.nih.gov/41786542/). *J Dermatol Sci*. [Diagnostic / Biomarker]
Cheng D (2026). [PMID: 41499108](https://pubmed.ncbi.nlm.nih.gov/41499108/). *JAMA Dermatol*. [Review / Meta-Analysis]
Cohen PR (2026). [PMID: 32644486](https://pubmed.ncbi.nlm.nih.gov/32644486/). *Unknown Journal*. [Basic Science / Preclinical]
Nykaza I (2026). [PMID: 41621676](https://pubmed.ncbi.nlm.nih.gov/41621676/). *J Am Acad Dermatol*. [Review / Meta-Analysis]
Du YJ (2026). [PMID: 41736049](https://pubmed.ncbi.nlm.nih.gov/41736049/). *Trials*. [Clinical Trial Publication]
Chidharla A (2026). [PMID: 29083584](https://pubmed.ncbi.nlm.nih.gov/29083584/). *Unknown Journal*. [Basic Science / Preclinical]
Serano M (2026). [PMID: 41972723](https://pubmed.ncbi.nlm.nih.gov/41972723/). *Cells*. [Review / Meta-Analysis]
Madhu M (2026). [PMID: 41884741](https://pubmed.ncbi.nlm.nih.gov/41884741/). *Indian J Dermatol*. [Basic Science / Preclinical]
Tsatsopoulou A (2026). [PMID: 40316016](https://pubmed.ncbi.nlm.nih.gov/40316016/). *Hellenic J Cardiol*. [Review / Meta-Analysis]
Atzgerstorfer L (2026). [PMID: 42193934](https://pubmed.ncbi.nlm.nih.gov/42193934/). *Cells*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:30 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Schöpf-Schulz-Passarge syndrome