Version: 8.0.0
Date: Tue Jan 28 2025
3MC syndrome
DOID:0060225
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

3MC 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.
Synonyms
  • craniofacial-ulnar-renal syndrome
  • oculopalatoskeletal syndrome
Cross References
Parent Terms
Child Terms
Sources of Associations

Associated Genes

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      Associated Models

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