Terminology Service for NFDI4Health

3MC syndrome

Go to external page http://purl.obolibrary.org/obo/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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

3MC syndrome

Synonyms
  • craniofacial-ulnar-renal syndrome
  • oculopalatoskeletal syndrome
database cross reference
Subsets

DO_rare_slim

comment

Xref MGI.

created by

emitraka

creation date

2015-01-16T15:08:40Z

has obo namespace

disease_ontology

id

DOID:0060225