ORPHA:1259
Blepharoptosis-myopia-ectopia lentis syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- historical
A rare, genetic, lens position anomaly disease characterized by bilateral congenital blepharoptosis, ectopia lentis and high grade myopia. Additional reported manifestations include abnormally long eye globes and signs of levator aponeurosis disinsertion. There have been no further descriptions in the literature since 1982.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blepharoptosis-myopia-ectopia lentis syndrome | |
| fr | Syndrome de blépharoptosis-myopie-ectopie du cristallin | |
| de | Blepharoptose-Myopie-Ectopia lentis-Syndrom | |
| es | Síndrome de blefaroptosis-miopía-ectopia lentis | |
| it | Blefaroptosi - miopia - ectopia del cristallino | |
| nl | Blefaroptose - myopie - ectopia lentis-syndroom | |
| pt | Síndrome de blefaroptose-miopia-ectopia do cristalino | |
| pl | Opadanie powiek- miopia - przemieszczenie soczewki | |
| cs | Syndrom zahrnující blefaroptózu, myopii a ektopia lentis | |
| uk | Синдром блефароптозу-міопії-ектопії | |
| zh | 眼睑松弛-近视-晶状体异位综合征 | |
| tr | Blefaroptozis-miyopi-ektopi lentis sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 110150 | E | validated | |
| ICD-10 | Q15.8 | NTBT | attributed | validated |
| ICD-11 | LA14.0Y | NTBT | index | validated |
| MONDO | 0007202 | E | validated | |
| MeSH | C536236 | E | validated | |
| UMLS | C4303549 | E | validated | |
| GARD | 912 | 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 (3):
- ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:519292Syndromic ectopia lentis
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522554Syndromic genetic ectopia lentis
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 | 3 cases | Worldwide | Case(s) | Validated | 6978128[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6978128[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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001083 | Ectopia lentis | |
| HP:0000501 | Glaucoma | |
| HP:0000545 | Myopia | |
| HP:0000508 | Ptosis | |
| Frequent (79-30%) | ||
| HP:0100798 | Fingernail dysplasia | |
| HP:0100540 | Palpebral edema | |
| Occasional (29-5%) | ||
| HP:0011039 | Abnormal helix morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000612 | Iris coloboma | |
| HP:0000269 | Prominent occiput | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1259
- This record as JSON: /data/d/1259.json