Term Name: | 3MC syndrome |
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Synonyms: | craniofacial-ulnar-renal syndrome, oculopalatoskeletal syndrome |
Definition: | A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. |
Ontology: | Human Disease [DOID:0060225] ( DOID:0060225 ) |