3MC syndrome (DOID:0060225)
Alliance: disease page
Synonyms: craniofacial-ulnar-renal syndrome; oculopalatoskeletal syndrome
Alt IDs: ICD10CM:Q87.8, OMIM:PS257920, ORDO:293843
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.