Details of Disease | DrugMAP

General Information of Disease (ID: DISG9E1R)

Disease Name	Oculomaxillofacial dysostosis
Synonyms	oblique facial clefts; oculomaxillofacial dysplasia with oblique facial clefts; Richieri Costa Gorlin syndrome; Richieri-Costa-Gorlin syndrome
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.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISHPNVX: Dysplasia DISWKYNJ: Disorder of facial skeleton DISG9E1R: Oculomaxillofacial dysostosis
Disease Identifiers	MONDO ID MONDO_0015824 MESH ID C537736 UMLS CUI C1838348 OMIM ID 600251 MedGen ID 333072 Orphanet ID 1794 SNOMED CT ID 763830009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SPECC1L	OT3WGZ73	Limited	Genetic Variation	[1]
------------------------------------------------------------------------------------

References

1	Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. Eur J Med Genet. 2019 Dec;62(12):103588. doi: 10.1016/j.ejmg.2018.11.022. Epub 2018 Nov 22.