Human Gene Set: HP_MARCUS_GUNN_JAW_WINKING_SYNKINESIS


Standard name HP_MARCUS_GUNN_JAW_WINKING_SYNKINESIS
Systematic name M47231
Brief description Marcus Gunn jaw winking synkinesis
Full description or abstract Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva maneuver and even by breathing. [PMID:23345532, PMID:25754805]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0025186
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External links https://hpo.jax.org/app/browse/term/HP:0025186
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace
Human_NCBI_Gene_ID
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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