ORPHA:2999
Ptosis-strabismus-ectopic pupils syndrome
historical
Synonyms: McPherson-Hall syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- historical
A rare genetic eye disease characterized by the combination of ptosis, strabismus and ectopic pupils. There have been no further descriptions in the literature since 1976.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ptosis-strabismus-ectopic pupils syndrome | McPherson-Hall syndrome |
| fr | Syndrome de ptosis-strabisme-pupilles ectopiques | Syndrome de McPherson-Hall · Syndrome de ptosis-strabisme-correctopie |
| de | Ptosis-Strabismus-ektopische Pupillen-Syndrom | Mcpherson-Hall-Syndrom |
| es | Síndrome de ptosis-estrabismo-pupilas ectópicas | Síndrome de Mcpherson-Hall |
| it | Ptosi - strabismo - pupille ectopiche | Sindrome di McPherson-Hall |
| nl | Ptosis - strabisme - ectopische pupillen-syndroom | Syndroom van McPherson-Hall |
| pt | Síndrome de ptose-estrabismo-pupilas ectópicas | Síndrome McPherson-Hall |
| pl | Ptoza - zez -źrenice ektopowe | Zespół McPhersona i Halla |
| cs | Syndrom zahrnující ptózu, strabismus a ektopické zornice | McPhersonův-Hallův syndrom · McPherson-Hallův syndrom |
| uk | Синдром птозу-косоокості-ектопічних зіниць | Синдром Макферсона-Холла |
| zh | 睑下垂-斜视-瞳孔异位综合征 | McPherson-Hall综合征 |
| tr | Pitoz-şaşılık-ektopik pupil sendromu | McPherson-Hall sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 178330 | E | validated | |
| ICD-10 | Q10.0 | NTBT | attributed | validated |
| ICD-11 | LA10.Y | NTBT | attributed | validated |
| MONDO | 0008341 | E | validated | |
| UMLS | C4511968 | E | validated | |
| GARD | 4577 | 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 (5):
- ORPHA:519286Rare disorder of the pupil
rare ophthalmic disorders - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:522568Rare genetic disorder of the pupil
rare genetic diseases - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
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 | 1 families | Worldwide | Family(ies) | Validated | 949861[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_949861[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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2999
- This record as JSON: /data/d/2999.json