ORPHA:1185
Spinocerebellar ataxia-dysmorphism syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- historical
A rare hereditary ataxia characterized by unusual facies (i. e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia-dysmorphism syndrome | |
| fr | Syndrome d'ataxie spinocérébelleuse-dysmorphie | |
| de | Spinozerebelläre Ataxie-Dysmorphie-Syndrom | |
| es | Síndrome de ataxia espinocerebelosa-dismorfia | |
| it | Sindrome atassia spinocerebellare-dismorfismi | |
| nl | Spinocerebellaire ataxie - dysmorfie-syndroom | |
| pt | Síndrome de ataxia espinocerebelosa-dismorfia | |
| pl | Ataksja rdzeniowo-módżkowa - dysmorfizm | |
| cs | Syndrom zahrnující spinocerebelární ataxii a dysmorfismus | |
| uk | Синдром спіноцеребелярної атаксії-дизморфізму | |
| zh | 脊髓小脑共济失调-畸形综合征 | |
| tr | Spinoserebellar ataksi-dismorfizm sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271270 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| MONDO | 0010062 | E | validated | |
| UMLS | C0796166 | E | validated | |
| GARD | 4958 | 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 (1):
- ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological 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 | 3980016[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3980016[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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0000337 | Broad forehead | |
| HP:0002208 | Coarse hair | |
| HP:0002967 | Cubitus valgus | |
| HP:0000268 | Dolichocephaly | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0003457 | EMG abnormality | |
| HP:0000286 | Epicanthus | |
| HP:0002816 | Genu recurvatum | |
| HP:0001263 | Global developmental delay | |
| HP:0000974 | Hyperextensible skin | |
| HP:0001252 | Hypotonia | |
| HP:0001382 | Joint hypermobility | |
| HP:0000639 | Nystagmus | |
| HP:0000520 | Proptosis | |
| HP:0000508 | Ptosis | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0003196 | Short nose | |
| HP:0003100 | Slender long bone | |
| HP:0012471 | Thick vermilion border | |
| Frequent (79-30%) | ||
| HP:0000256 | Macrocephaly | |
| HP:0000648 | Optic atrophy | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0004322 | Short stature | |
| HP:0003298 | Spina bifida occulta | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1185
- This record as JSON: /data/d/1185.json