IVIC syndrome
Synonyms: Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | IVIC syndrome | Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia |
| fr | Syndrome IVIC | Syndrome oculo-oto-radial |
| de | IVIC-Syndrom | Okulo-oto-radiales Syndrom |
| es | Síndrome IVIC | Síndrome óculo-oto-radial |
| it | Sindrome IVIC | Sindrome oculo-oto-radiale |
| nl | IVIC-syndroom | Oculo-oto-radiaal syndroom |
| pt | Síndrome IVIC | Síndrome óculo-oto-radial |
| pl | Zespół IVIC | Zespół oczno-uszno-promieniowy |
| cs | IVIC syndrom | Okulootoradiální syndrom · Porucha radiální osy, zhoršení sluchu, externí oftalmoplegie a trombocytopenie |
| uk | IVIC-синдром | Окуло-ото-радіальний синдром · Дефекти променевої системи, порушення слуху, зовнішня офтальмоплегія та тромбоцитопенія |
| zh | IVIC 综合征 | 桡侧序列缺损，听力障碍，眼外肌麻痹和血小板减少症 |
| tr | IVIC sendromu | Okulo-oto-radyal sendrom · Radyal ışın kusurları, işitme bozukluğu, eksternal oftalmopleji ve trombositopeni |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 147750 | E | validated | |
| ICD-10 | Q71.8 | NTBT | attributed | validated |
| MONDO | 0007836 | E | validated | |
| MeSH | C535544 | E | validated | |
| UMLS | C1327918 | E | validated | |
| GARD | 269 | 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 (4):
- ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SALL4 | Disease-causing germline mutation(s) in | Assessed | HGNC:15924 | ENSG00000101115 | 607343 | 20q13.2 | spalt like transcription factor 4 | 17256792[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | Validated | 17256792[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.
HPO phenotypes
18 annotations · validated 2017-11-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0001387 | Joint stiffness | |
| HP:0003510 | Severe short stature | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0002650 | Scoliosis | |
| HP:0009778 | Short thumb | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0001199 | Triphalangeal thumb | |
| Occasional (29-5%) | ||
| HP:0002023 | Anal atresia | |
| HP:0006660 | Aplastic clavicles | |
| HP:0011675 | Arrhythmia | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0000143 | Rectovaginal fistula | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2307
- This record as JSON: /data/d/2307.json