jaw-winking syndrome
MeSH: C535908ORPHA: 91412
Overview
autosomal dominant condition with incomplete penetrance, in which nursing infants will have rhythmic upward jerking of their upper eyelid
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with jaw-winking syndrome, sourced from HPO and Orphanet clinical annotations.
Marcus Gunn jaw winking synkinesisStrabismusAmblyopiaUnilateral ptosisAbnormal fifth cranial nerve morphologyHypotropiaPostnatal growth retardationNeurodevelopmental delayAnisometropiaDouble elevator palsySuperior rectus muscle underactionAbnormality of the genital systemCleft palateChoanal atresiaColobomaNephrolithiasisAbnormal heart morphologyAbnormality of the sense of smellMorning glory anomalyAbnormal ear morphologyCleft lip
Classification & Codes
MeSH Code
C535908Orphanet Code
ORPHA:91412jaw-winking syndrome
| MeSH | C535908 |
| Orphanet | ORPHA:91412 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO