ORPHA:91412
Marcus-Gunn syndrome
Synonyms: Jaw-winking syndrome · Mandibulo-palpebral synkinesis-ptosis syndrome · Marcus-Gunn phenomenon
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare ophthalmic disorder characterized by congenital ptosis associated with pterygoid-levator synkinesis (also called jaw-winking).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Marcus-Gunn syndrome | Jaw-winking syndrome · Mandibulo-palpebral synkinesis-ptosis syndrome · Marcus-Gunn phenomenon |
| fr | Syndrome de Marcus-Gunn | Phénomène de Marcus-Gunn · Syndrome de jaw-winking · Syndrome de syncinésie mandibulo-palpébrale-ptosis |
| de | Marcus-Gunn-Syndrom | Marcus-Gunn-Phänomen |
| es | Síndrome de Marcus-Gunn | Fenómeno de Marcus-Gunn |
| it | Sindrome di Marcus-Gunn | Fenomeno di Marcus-Gunn |
| nl | Syndroom van Marcus-Gunn | 'Jaw winking'-syndroom · Fenomeen van Marcus-Gunn · Mandibulopalpebrale synkinese - ptosis-syndroom |
| pt | Síndrome de Marcus-Gunn | |
| pl | Zespół Marcusa Gunna | Fenomen Marcusa Gunna · Współruch żuchwowo-powiekowy - ptoza · Zespół Jaw-winking syndrome |
| cs | Syndrom Marcuse Gunna | Syndrom mandibulární synkineze · Syndrom zahrnující mandibulopalpebrální synkinezi a ptózu · Marcus Gunnův fenomén · Gunnův syndrom mandibulární synkineze |
| uk | Синдром Маркуса-Гунна | Синдром підморгування щелепи · Синдром мандибуло-пальпебрального синкинезу-птозу · Явище Маркуса-Гунна |
| zh | Marcus-Gunn综合征 | 下颌-眼睑联动-睑下垂综合征 |
| tr | Marcus-Gunn sendromu | Çene-göz kırpma sendromu · Marcus-Gunn fenomeni · Mandibulo-palpebral sinkinezi-pitozis sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 154600 | E | validated | |
| ICD-10 | Q07.8 | NTBT | inclusion | validated |
| ICD-11 | 9A03.00 | E | specific | validated |
| MONDO | 0007946 | E | validated | |
| MeSH | C535908 | E | validated | |
| UMLS | C0266521 | E | validated | |
| GARD | 6972 | E | validated | |
| MedDRA | 10064583 | 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 (1):
- ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
21 annotations · validated 2021-10-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0025186 | Marcus Gunn jaw winking synkinesis | Pathognomonic sign |
| Frequent (79-30%) | ||
| HP:0010824 | Abnormal fifth cranial nerve morphology | |
| HP:0000646 | Amblyopia | |
| HP:0025584 | Hypotropia | |
| HP:0000486 | Strabismus | |
| HP:0007687 | Unilateral ptosis | |
| Occasional (29-5%) | ||
| HP:0012803 | Anisometropia | |
| HP:0020041 | Double elevator palsy | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0031747 | Superior rectus muscle underaction | |
| Very rare (<4-1%) | ||
| HP:0031703 | Abnormal ear morphology | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0004408 | Abnormality of the sense of smell | |
| HP:0000453 | Choanal atresia | |
| HP:0410030 | Cleft lip | |
| HP:0000175 | Cleft palate | |
| HP:0000589 | Coloboma | |
| HP:0025514 | Morning glory anomaly | |
| HP:0000787 | Nephrolithiasis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 27608283[PMID]_33598261 [PMID]_32644484[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91412
- This record as JSON: /data/d/91412.json