DISEASES

Disease-gene associations mined from literature

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 ...