syndromic disease hereditary disease oculomaxillofacial dysostosis https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/oculomaxillofacial_dysostosis UMLS:C1838348 Richieri Costa Gorlin syndrome icd11.foundation:921026296 MESH:C537736 Richieri-Costa-Gorlin syndrome oblique facial clefts Orphanet:1794 oculomaxillofacial dysplasia with oblique facial clefts MONDO:0015824 SCTID:763830009 GARD:0004046 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. MEDGEN:333072 dysostosis disorder of facial skeleton