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3MC syndrome

Disease definition

A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, intellectual disability and/or learning disability, radioulnar synostosis, genital and vesicorenal anomalies. Observed facial dysmorphism includes hypertelorism, blepharophimosis, blepharoptosis, high arched eyebrows. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

ORPHA:293843

Classification level: Disorder
  • Synonym(s):
    • Craniofacial-ulnar-renal syndrome
    • Malpuech-Michels-Mingarelli-Carnevale syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 248340  257920  265050
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Professionals

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