Ophthalmomandibulomelic dysplasia
MeSH: C563501ORPHA: 2741
Overview
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms
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 Ophthalmomandibulomelic dysplasia, sourced from HPO and Orphanet clinical annotations.
MegalocorneaGlaucomaBlindnessLimitation of joint mobilityRadioulnar synostosisMicromeliaMesomeliaElbow dislocationAbnormality of bone mineral densitySynostosis of carpal bonesObtuse angle of mandibleUlnar deviated club handsRadioulnar dislocationLateral humeral condyle aplasiaAplasia/Hypoplasia of the radiusCorneal opacityTemporomandibular joint ankylosisCamptodactyly of finger
Classification & Codes
MeSH Code
C563501Orphanet Code
ORPHA:2741Ophthalmomandibulomelic dysplasia
| MeSH | C563501 |
| Orphanet | ORPHA:2741 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO