ORPHA:50944
Schöpf-Schulz-Passarge syndrome
Synonyms: Eccrine tumors-ectodermal dysplasia · Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome · Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome · Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome · SSPS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Schöpf-Schulz-Passarge syndrome | Eccrine tumors-ectodermal dysplasia · Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome · Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome · Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome · SSPS |
| fr | Syndrome de Schöpf-Schulz-Passarge | SSPS · SSSP · Syndrome d'hyperkératose palmoplantaire-kystes des paupières-hypodontie-hypotrichose · Syndrome de kératodermie palmoplantaire-kystes des paupières-hypodontie-hypotrichose · Tumeurs eccrines-dysplasie ectodermique |
| de | Schöpf-Schulz-Passarge-Syndrom | Ekkrine Tumore - ektodermale Dysplasie · Palmoplantarkeratose-zystische Augenlider-Hypodontie-Hypotrichose-Syndrom · SSPS |
| es | Síndrome de Schöpf-Schulz-Passarge | SSPS · Síndrome de hiperqueratosis palmoplantar-párpados quísticos-hipodoncia-hipotricosis · Síndrome de queratodermia palmoplantar-párpados quísticos-hipodoncia-hipotricosis · Síndrome de queratosis palmoplantar-párpados quísticos-hipodoncia-hipotricosis · Tumores ecrinos-displasia ectodérmica |
| it | Sindrome di Schöpf-Schulz-Passarge | Cheratoderma palmoplantare - palpebre cistiche - ipodontia - ipotricosi · Cheratosi palmoplantare - palpebre cistiche - ipodontia - ipotricosi · Ipercheratosi palmoplantare - palpebre cistiche - ipodontia - ipotricosi · SSPS · Tumori eccrini - displasia ectodermica |
| nl | Syndroom van Schöpf-Schulz-Passarge | Eccriene tumoren - ectodermale dysplasie · Keratosis palmoplantaris - cystische oogleden - hypodontie - hypotrichose-syndroom · Palmoplantaire hyperkeratose - cystische oogleden - hypodontie - hypotrichose-syndroom · Palmoplantaire keratodermie - cystische oogleden - hypodontie - hypotrichose-syndroom · SSPS |
| pt | Síndrome Schöpf-Schulz-Passarge | SSPS · Síndrome de queratose palmoplantar-pálpebras quísticas-hipodontia-hipotricose · Tumores écrinos-displasia ectodérmica |
| pl | Zespół Schopfa, Schulza i Passarge'a | Guzy ekrynowe-dysplazja ektodermalna · Hiperkeratoza dłoniowo-podeszwowa - torbiele powiek - hipodoncja - hipotrichoza · Rogowiec dłoni i stóp - torbiele powiek - hipodoncja - hipotrichoza · Rogowiec dłoniowo-podeszwowy - torbiele powiek - hipodoncja - hipotrichoza · SSPS |
| cs | Schöpfův-Schulzův-Passargův syndrom | Ekrinní nádory a ektodermální dysplázie · SSPS · Syndrom zahrnující palmoplantární keratózu, cysty očních víček, hypodoncii a hypotrichózu · Syndrom zahrnující palmoplantární hypokeratózu, cysty očních víček, hypodoncii a hypotrichózu · Syndrom zahrnující palmoplantární keratoderma, cysty očních víček, hypodoncii a hypotrichózu · Schöpf-Schulz-Passargův syndrom |
| uk | Синдром Шепфа-Шульца-Пассаржа | Екринні пухлини - ектодермальна дисплазія · Кератоз долонь-кістозні повіки-гіподонтія-гіпотрихозний синдром · Долонно-піднебінний гіперкератоз-кістозні повіки-гіподонтія-гіпотрихозний синдром · Долонно-підошовна кератодермія-кістозні повіки-гіподонтія-гіпотрихозний синдром · SSPS |
| zh | Sch÷pf-Schulz-Passarge综合征 | 掌跖角化过度-眼睑囊瘤-牙发育不全-毛发稀少综合症 |
| tr | Schöpf-Schulz-Passarge sendromu | SSPS · Ekrin tümörleri-ektodermal displazi · Keratoz palmoplantaris-kistik göz kapakları-hipodonti-hipotrikoz sendromu · Palmoplantar keratoderma-kistik göz kapakları-hipodonti-hipotrikoz sendromu · Palmoplantar hiperkeratoz-kistik göz kapakları-hipodonti-hipotrikoz sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 224750 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009145 | E | validated | |
| MeSH | C565607 | E | validated | |
| UMLS | C1857069 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:307804Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
rare genetic diseases; rare skin diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WNT10A | Disease-causing germline mutation(s) in | Assessed | HGNC:13829 | ENSG00000135925 | 606268 | 2q35 | Wnt family member 10A | 19559398[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000968 | Ectodermal dysplasia | |
| HP:0007380 | Facial telangiectasia | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0008070 | Sparse hair | |
| Frequent (79-30%) | ||
| HP:0001596 | Alopecia | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0000668 | Hypodontia | |
| HP:0006323 | Premature loss of primary teeth | |
| Occasional (29-5%) | ||
| HP:0002671 | Basal cell carcinoma | |
| HP:0000320 | Bird-like facies | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0002860 | Squamous cell carcinoma | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/50944
- This record as JSON: /data/d/50944.json