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imperforate oropharynx-costo vetebral anomalies syndrome

Disease Summary
Associated Targets ()

Mondo Description Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.
Mondo Term and Equivalent IDs
MONDO:0017162:  imperforate oropharynx-costo vetebral anomalies syndrome
GARD:0002989: 
Orphanet:2759: 
UMLS:CN202584: