You are using an outdated browser. Please upgrade your browser to improve your experience.

oculomaxillofacial dysostosis

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0015824:  oculomaxillofacial dysostosis
GARD:0004046: 
MESH:C537736: 
Orphanet:1794: 
SCTID:763830009: 
UMLS:C1838348: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found