Oculomaxillofacial dysostosis

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.

Also known as: Richieri-Costa-Gorlin syndrome, Richieri Costa Gorlin syndrome, oblique facial clefts, oculomaxillofacial dysplasia with oblique facial clefts

1 clinical trial for this condition and its sub-types, 0 tagged with Oculomaxillofacial dysostosis itself.