oculomaxillofacial dysostosis
MeSH: C537736ORPHA: 1794
Overview
human disease
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 oculomaxillofacial dysostosis, sourced from HPO and Orphanet clinical annotations.
Median cleft upper lipAbnormality of the dentitionCleft palateAbnormality of the noseUnderdeveloped nasal alaeWide nasal bridgeAbnormal eyelash morphologyUpslanted palpebral fissureTessier cleftShort statureCorneal opacityAplasia/Hypoplasia of the eyebrowSparse or absent eyelashesMicrognathiaAbnormal eyelid morphologyBrachydactylyAdducted thumbAplasia/Hypoplasia affecting the eyeCamptodactyly of fingerCognitive impairmentAbnormal humerus morphology
Classification & Codes
MeSH Code
C537736Orphanet Code
ORPHA:1794oculomaxillofacial dysostosis
| MeSH | C537736 |
| Orphanet | ORPHA:1794 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO