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skos:definition |
JABL: A complex syndrome characterized mainly by aural, oral, and mandibular developmental anomalies which may vary from mild to severe and frequently involve one side of the body. Vertebral anomalies, epibulbar epidermoids, mental retardation, and numerous other anomalies are frequently associated. Orofacial anomalies differ from those in mandibulofacial dysostosis which are usually symmetrical. The presence of hypertelorism may indicate aneuploidy.,NCI: A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.
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