Term Name: 3MC syndrome
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 )

Relationships
is a type of: autosomal recessive disease syndrome
has subtype: 3MC syndrome 1 3MC syndrome 2 3MC syndrome 3