ORPHA:2310
Absence deformity of leg-cataract syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- historical
A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Absence deformity of leg-cataract syndrome | |
| fr | Syndrome d'hypoplasie de la jambe-cataracte | |
| de | Syndrom der Beinverlust-Deformität mit Katarakt | |
| es | Síndrome de hipoplasia de pierna-catarata | |
| it | Ipoplasia della gamba - cataratta | |
| nl | Afwezigheid van been - cataract-syndroom | |
| pt | Síndrome de malformação ausência de perna-cataratas | |
| pl | Brak nogi - zaćma | |
| cs | Syndrom zahrnující absenci deformity nohy a kataraktu | |
| uk | Синдром однобічної деформації ноги та катаракти | |
| zh | 腿-白内障综合征缺失畸形 | |
| tr | Bacakta deformite yokluğu-katarakt sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 246000 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0009516 | E | validated | |
| UMLS | C4274843 | 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:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
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 | 2 cases | Worldwide | Case(s) | Validated | 5694533[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5694533[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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0002814 | Abnormality of the lower limb | |
| HP:0000518 | Cataract | |
| HP:0003307 | Hyperlordosis | |
| HP:0009816 | Lower limb undergrowth | |
| HP:0002650 | Scoliosis | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0002023 | Anal atresia | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2310
- This record as JSON: /data/d/2310.json