Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
Synonyms: Syndactyly-nystagmus syndrome due to dup(2)(q31.1) · Syndactyly-nystagmus syndrome due to trisomy 2q31.1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndactyly-nystagmus syndrome due to 2q31.1 microduplication | Syndactyly-nystagmus syndrome due to dup(2)(q31.1) · Syndactyly-nystagmus syndrome due to trisomy 2q31.1 |
| fr | Syndrome de syndactylie-nystagmus dû à une microduplication 2q31.1 | Syndrome de syndactylie-nystagmus dû à une dup(2)(q31.1) · Syndrome de syndactylie-nystagmus dû à une trisomie 2q31.1 |
| de | Syndaktylie-Nystagmus-Syndrom durch Mikroduplikation 2q31.1 | Syndaktylie-Nystagmus-Syndrom durch Trisomie 2q31.1 · Syndaktylie-Nystagmus-Syndrom durch dup(2)(q31.1) |
| es | Síndrome de sindactilia-nistagmo por microduplicación 2q31.1 | Síndrome de sindactilia-nistagmo por dup(2)(q31.1) · Síndrome de sindactilia-nistagmo por trisomía 2q31.1 |
| it | Sindrome sindattilia - nistagmo da microduplicazione 2q31.1 | |
| nl | Syndactylie - nystagmus-syndroom door 2q31.1 microduplicatie | Syndactylie - nystagmus-syndroom door dup(2)(q31.1) · Syndactylie - nystagmus-syndroom door trisomie 2q31.1 |
| pt | Síndrome de microduplicação 2q31.1 | Trissomia 2q31.1 · Dup(2)(q31.1) |
| pl | Zespół mikroduplikacji 2q31.1 | Dup(2)(q31.1) · Trisomia 2q31.1 |
| cs | Mikroduplikační syndrom 2q31.1 | Dup(2)(q31.1) · Trizomie 2q31.1 |
| uk | Синдром синдактилії-ністагму внаслідок мікродуплікації 2q31.1 | Синдром синдактилії-ністагму внаслідок dup(2)(q31.1) · Синдром синдактилії-ністагму внаслідок трисомії 2q31.1 |
| zh | 2q31.1微重复引起的并指-眼球震颤综合征 | 2q31.1三体所致并指-眼球震颤综合征 |
| tr | 2q31.1 mikroduplikasyonu kaynaklı sindaktili-nistagmus sendromu | Dup (2) (q31.1)'e bağlı sindaktili-nistagmus sendromu · Trizomi 2q31.1'e bağlı sindaktili-nistagmus sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613681 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| MONDO | 0013363 | E | validated | |
| UMLS | C5190993 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:262842Partial duplication of the long arm of chromosome 2 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 21654727[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21654727[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/294026
- This record as JSON: /data/d/294026.json