3MC syndrome

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Disease Overview

3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti.


Synonyms

  • Malpuech-Michels-Mingarelli-Carnevale syndrome
  • craniofacial-ulnar-renal syndrome
  • oculopalatoskeletal syndromeMalpuech-Michels-Mingarelli-Carnevale syndrome
  • craniofacial-ulnar-renal syndrome
  • oculopalatoskeletal syndrome