3MC syndrome

Term ID

DOID:0060225

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. https://www.ncbi.nlm.nih.gov/pubmed/16096999

References

• GARD:1118
• ICD10CM:Q87.8
• OMIM:PS257920
• ORDO:293843

Ontology

Human Disease   ( DOID:0060225 )