3MC syndrome
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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
3MC syndrome
- craniofacial-ulnar-renal syndrome
- oculopalatoskeletal syndrome
DO_rare_slim
Xref MGI.
emitraka
2015-01-16T15:08:40Z
disease_ontology
DOID:0060225