ORPHA:1891
Intellectual disability-spasticity-ectrodactyly syndrome
historical
Synonyms: Jancar syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-spasticity-ectrodactyly syndrome | Jancar syndrome |
| fr | Syndrome d'ectrodactylie-paraplégie spastique-déficience intellectuelle | Syndrome de Jancar |
| de | Intelligenzminderung-spastische Paraplegie-Ektrodaktylie-Syndrom | Jancar-Syndrom · Syndromale Intelligenzminderung mit Spastik und distalen transversalen Defekten der Gliedmaßen |
| es | Síndrome de discapacidad intelectual-espasticidad-ectrodactilia | Síndrome de Jancar |
| it | Disabilità intellettiva-spasticità-ectrodattilia | Sindrome di Jancar |
| nl | Intellectuele achterstand - spasticiteit - ectrodactylie-syndroom | Syndroom van Jancar |
| pt | Síndrome de perturbação do desenvolvimento intelectual-espasticidade-ectrodactilia | Síndrome Jancar |
| pl | Niepełnosprawność intelektualna - spastyczność - ektrodaktylia | Zespół Jancar |
| cs | Syndrom zahrnující mentální retardaci, spasticitu a ektrodaktylii | Jancarův syndrom |
| uk | Синдром інтелектуальної недостатності-спастичності-ектродактилії | Синдром Джанкара |
| zh | 智力障碍-痉挛-缺指（趾）综合征 | Jancar综合征 |
| tr | Zihinsel yetersizlik-spastisite-ektrodaktili sendromu | Jancar sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 246555 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0009524 | E | validated | |
| MeSH | C537446 | E | validated | |
| UMLS | C0796001 | E | validated | |
| GARD | 3523 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 8368260[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8368260[PMID] |
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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0003272 | Abnormality of the hip bone | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0006101 | Finger syndactyly | |
| HP:0001347 | Hyperreflexia | |
| HP:0001258 | Spastic paraplegia | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1891
- This record as JSON: /data/d/1891.json