ORPHA:1246
Brachydactyly-nystagmus-cerebellar ataxia syndrome
historical
Synonyms: Biemond syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly, nystagmus, and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly-nystagmus-cerebellar ataxia syndrome | Biemond syndrome |
| fr | Syndrome de brachydactylie-nystagmus-ataxie cérébelleuse | Syndrome de Biemond |
| de | Brachydaktylie-Nystagmus-zerebelläre Ataxie-Syndrom | |
| es | Síndrome de braquidactilia-nistagmo-ataxia cerebelosa | Síndrome de Biemond |
| it | Sindrome brachidattilia-nistagmo-atassia cerebellare | Sindrome di Biemond |
| nl | Brachydactylie - nystagmus - cerebellaire ataxie-syndroom | Syndroom van Biemond |
| pt | Síndrome de braquidactilia-nistagmus-ataxia cerebelosa | Síndrome Biemond |
| pl | Brachydaktylia - oczopląs - ataksja móżdżkowa | Zespół Biemonda |
| cs | Syndrom zahrnující brachydaktylii, nystagmus a cerebelární ataxii | Biemondův syndrom |
| uk | Синдром брахідактилії-ністагму-мозочкової атаксії | Синдром Бімонда |
| zh | 短指症-眼球震颤-小脑共济失调综合征 | Biemond综合征 |
| tr | Brakidaktili-nistagmus-serebellar ataksi sendromu | Biemond sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113400 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0007226 | E | validated | |
| UMLS | C0344467 | E | validated | |
| GARD | 971 | 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:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic 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 | 1 families | Worldwide | Family(ies) | Validated | PDF:1934114230001a[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_PDF:1934114230001a[OTHER] |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1246
- This record as JSON: /data/d/1246.json