ORPHA:3454
Wieacker-Wolff syndrome
Synonyms: Foot contractures-muscle atrophy-oculomotor apraxia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, X-linked recessive
- Age of onset
- Neonatal
- Status
- active
Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wieacker-Wolff syndrome | Foot contractures-muscle atrophy-oculomotor apraxia syndrome |
| fr | Syndrome de Wieacker-Wolff | Syndrome des contractures du pied-atrophie musculaire-apraxie oculomotrice |
| de | Wieacker-Wolff-Syndrom | Fußkontrakturen-Muskelatrophie-okulomotorische Apraxie-Syndrom |
| es | Síndrome de Wieacker-Wolff | Síndrome de contracturas en los pies-atrofia muscular-apraxia oculomotora |
| it | Sindrome di Wieacker-Wolff | Sindrome contratture dei piedi-atrofia muscolare-aprassia oculomotoria · Sindrome di Wieacker-Wolff |
| nl | Syndroom van Wieacker-Wolff | Voetcontracturen - spieratrofie - oculomotorische apraxie-syndroom |
| pt | Síndrome de perturbação do desenvolvimento intelectual-atraso do desenvolvimento-contraturas | Síndrome Wieacker-Wolff · Síndrome de contraturas dos pés-atrofia muscular-apraxia oculomotora |
| pl | Zespół niepełnosprawności intelektualnej, opóźnienia w rozwoju i przykurczy | Przykurcze stopy - atrofia mięśni - apraksja oczno-mięśniowa · Zespół Wieackera i Wolffa |
| cs | Syndrom zahrnující mentální retardaci, opoždění vývoje a kontraktury | Syndrom zahrnující kontraktury nohy, svalovou atrofii a okulomotorickou apraxii · Wieackerův-Wolffův syndrom · Wieacker-Wolffův syndrom |
| uk | Синдром інтелектуальної недостатності-затримки розвитку-контрактур | Синдром контрактури стоп - атрофії мязів - окуломоторної апраксії · Синдром Віакера-Вольфа |
| zh | 智力障碍-发育迟缓-挛缩综合征 | 足挛缩-肌萎缩-动眼运用不能综合征 |
| tr | Zihinsel yetersizlik-gelişme geriliği-kontraktür sendromu | Wieacker-Wolff sendromu · Ayak kontraktürleri-kas atrofisi-okülomotor apraksi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301041 | BTNT | validated | |
| OMIM | 314580 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010758 | E | validated | |
| MeSH | C536703 | E | validated | |
| UMLS | C0796200 | E | validated | |
| GARD | 7890 | 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 (4):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:206634Genetic skeletal muscle disease
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:85283X-linked intellectual disability, Miles-Carpenter type moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZC4H2 | Disease-causing germline mutation(s) in | Assessed | HGNC:24931 | ENSG00000126970 | 300897 | Xq11.2 | zinc finger C4H2-type containing | 23623388[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | ORPHANET_23623388[PMID] | |
| 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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0100022 | Abnormality of movement | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0005745 | Congenital foot contractures | |
| HP:0003693 | Distal amyotrophy | |
| HP:0001263 | Global developmental delay | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000657 | Oculomotor apraxia | |
| Occasional (29-5%) | ||
| HP:0002808 | Kyphosis | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0000486 | Strabismus | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3454
- This record as JSON: /data/d/3454.json