Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature

Cleft Palate Craniofac J. 2017 Nov;54(6):739-748. doi: 10.1597/15-151. Epub 2016 Jun 29.


We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal deletion in the COLEC11 gene. Two affected brothers from a second family, also born to first-cousin parents, shared a region of homozygosity that included the second gene known to cause the 3MC syndrome, MASP1. We discuss the diagnostic approach of craniofacial disorders born to consanguineous parents and highlight a literature search and reference a helpful dysmorphology solution powered by FDNA (Facial Dysmorphology Novel Analysis) technology.

Keywords: cleft lip and palate; genetics; microarray; molecular diagnostics; syndromic orofacial clefting.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abdominal Muscles / abnormalities*
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Blepharoptosis / genetics*
  • Collectins / genetics*
  • Consanguinity*
  • Craniofacial Abnormalities / genetics*
  • Craniosynostoses / genetics*
  • Cryptorchidism / genetics*
  • Developmental Disabilities / genetics
  • Eye Abnormalities / genetics*
  • Female
  • Gene Deletion
  • Heart Defects, Congenital / genetics*
  • Hip Dislocation, Congenital / genetics*
  • Humans
  • Male
  • Mannose-Binding Protein-Associated Serine Proteases / genetics*
  • Pakistan
  • Risk Factors
  • Strabismus / genetics*


  • Colec11 protein, human
  • Collectins
  • MASP1 protein, human
  • Mannose-Binding Protein-Associated Serine Proteases

Supplementary concepts

  • Carnevale syndrome
  • Malpuech facial clefting syndrome
  • Oculopalatoskeletal syndrome