Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
historical
Synonyms: Levic-Stefanovic-Nikolic syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome | Levic-Stefanovic-Nikolic syndrome |
| fr | Syndrome d'ophtalmoplégie-déficience intellectuelle-langue scrotale | Syndrome de Levic-Stefanovic-Nikolic |
| de | Ophthalmoplegie-Intelligenzminderung-Lingua scrotalis-Syndrom | Levic-Stefanovic-Nicolic-Syndrom |
| es | Síndrome de oftalmoplejía-discapacidad intelectual-lengua escrotal | Síndrome de Levic-Stefanovic-Nikolic |
| it | Sindrome da oftalmoplegia, disabilità intellettiva e lingua scrotale | Sindrome di Levic-Stefanovic-Nikolic |
| nl | Oftalmoplegie - intellectuele achterstand - lingua scrotalis-syndroom | Syndroom van Levic-Stefanovic-Nikolic |
| pt | Síndrome de oftalmoplegia-perturbação do desenvolvimento intelectual-língua scrotalis | Síndrome Levic-Stefanovic-Nikolic |
| pl | Oftalmoplegia - niepełnosprawność intelektualna - język pobrużdżony | Zespół Levica, Stefanovica i Nikolica |
| cs | Syndrom zahrnující oftalmoplegii, mentální retardaci a zbrázděný jazyk | Levičův-Stefanovičův-Nikoličův syndrom · Levič-Stefanovič-Nikoličův syndrom |
| uk | Синдром офтальмоплегії-інтелектуальної недостатності-складчастого язика | Синдром Левіка-Стефановича-Ніколя |
| zh | 眼肌麻痹-智力障碍-皱襞舌综合征 | Levic-Stefanovic-Nikolic综合征 |
| tr | Oftalmopleji-zihinsel yetersizlik-lingua skrotalis sendromu | Levic-Stefanovic-Nikolic sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 165150 | E | validated | |
| ICD-10 | H51.2 | NTBT | attributed | validated |
| MONDO | 0008130 | E | validated | |
| UMLS | C5190740 | E | validated | |
| GARD | 3236 | 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: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:522522Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
rare genetic diseases - ORPHA:519347Rare neuromuscular disorder with ocular motility/alignment anomaly
rare ophthalmic disorders
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 | 6 cases | Worldwide | Case(s) | Validated | 1167409[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1167409[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
13 annotations · validated 2017-09-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000221 | Furrowed tongue | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0012246 | Oculomotor nerve palsy | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0000508 | Ptosis | |
| HP:0001328 | Specific learning disability | |
| Frequent (79-30%) | ||
| HP:0010628 | Facial palsy | |
| HP:0000545 | Myopia | |
| Occasional (29-5%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0002301 | Hemiplegia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2743
- This record as JSON: /data/d/2743.json