oculomaxillofacial dysostosis
Findings
No curated finding names oculomaxillofacial dysostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0015824), read 2026-09-29. CC BY 4.0.
Features
21 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.
- Abnormal eyelash morphologyHPOHP:0000499
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Abnormality of the noseHPOHP:0000366
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the eyebrowHPOHP:0100840
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Corneal opacityHPOHP:0007957
- Frequent (30% to 79% of cases)
- Median cleft upper lip
Show the remaining 9
- Wide nasal bridgeHPOHP:0000431
- Frequent (30% to 79% of cases)
- Abnormal eyelid morphologyHPOHP:0000492
- Occasional (5% to 29% of cases)
- Abnormal humerus morphologyHPOHP:0031095
- Occasional (5% to 29% of cases)
- Adducted thumbHPOHP:0001181
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia affecting the eyeHPOHP:0008056
- Occasional (5% to 29% of cases)
- BrachydactylyHPOHP:0001156
- Occasional (5% to 29% of cases)
Where it sits
- Narrower terms (1)
Other names
1 name
Resolves to: oculomaxillofacial dysostosis
- Also called
- Richieri-Costa-Gorlin syndrome