Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060225 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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