Marcus-Gunn syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
JAW-WINKING MAXILLOPALPEBRAL SYNKINESIS Mandibulo-palpebral synkinesis - ptosis Jaw-winking syndrome Marcus-Gunn phenomenon |
| Number of Symptoms | 5 |
| OrphanetNr: | 91412 |
| OMIM Id: |
154600
|
| ICD-10: |
Q07.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
10064583 |
| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ptosis
-Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0007687) | Unilateral ptosis | 4 / 7739 | ||||
|
|
(HPO:0007970) | Congenital ptosis | 7 / 7739 | ||||
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Unilateral congenital ptosis | 1 / 7739 | ||||
|
|
(OMIM) | Rapid exaggerated elevation of ptotic eyelid on jaw motion | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
The Marcus Gunn phenomenon consists of unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. Although it usually persists into adult life, the phenomenon is seen in its most marked ... |