Human genes for 3MC syndrome
3MC syndrome [DOID:0060225]
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.
Synonyms: 3MC syndrome, 3MC disease, 3MC disorder, DOID:0060225, craniofacial-ulnar-renal syndrome ...