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GTR Home > Conditions/Phenotypes > Oculomaxillofacial dysostosis

Oculomaxillofacial dysostosis

Synonyms
Oblique facial clefts; Oculomaxillofacial dysplasia with oblique facial clefts; Richieri Costa Gorlin syndrome

Summary

Oblique facial clefts are a rare form of orofacial clefting, comprising about 0.25% of all facial clefts. Two major types have been described classically: nasoocular and oroocular, the latter of which can be subdivided into oromedial-canthal and orolateral-canthal (summary by Dasouki et al., 1988). [from OMIM]

Available tests

16 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CYTSA, GBBB2, OBLFC1, TBHS, TBHS1, SPECC1L
    Summary: sperm antigen with calponin homology and coiled-coil domains 1 like

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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