ophthalmomandibulomelic dysplasia
MONDO:0008127Mondo
Findings
No curated finding names ophthalmomandibulomelic dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.
Definition from the Mondo Disease Ontology (MONDO:0008127), read 2026-09-29. CC BY 4.0.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of bone mineral densityHPOHP:0004348
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the radiusHPOHP:0006501
- Very frequent (80% to 99% of cases)
- BlindnessHPOHP:0000618
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- Elbow dislocationHPOHP:0003042
- Very frequent (80% to 99% of cases)
- Finger symphalangismHPOHP:0009700
- Very frequent (80% to 99% of cases)
- Lateral humeral condyle aplasiaHPOHP:0006441
- Very frequent (80% to 99% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Very frequent (80% to 99% of cases)
- MesomeliaHPOHP:0003027
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- Obtuse angle of mandibleHPOHP:0005446
- Very frequent (80% to 99% of cases)
Show the remaining 7
- Radioulnar dislocationHPOHP:0006439
- Very frequent (80% to 99% of cases)
- Radioulnar synostosisHPOHP:0002974
- Very frequent (80% to 99% of cases)
- Synostosis of carpal bonesHPOHP:0005048
- Very frequent (80% to 99% of cases)
- Temporomandibular joint ankylosisHPOHP:0012478
- Very frequent (80% to 99% of cases)
- Ulnar deviated club handsHPOHP:0006055
- Very frequent (80% to 99% of cases)
- GlaucomaHPOHP:0000501
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: ophthalmomandibulomelic dysplasia
- Also called
- OMM syndromePillay syndrome