A familial syndromal form of omphalocele

Eur J Med Genet. 2011 May-Jun;54(3):337-40. doi: 10.1016/j.ejmg.2011.02.001. Epub 2011 Feb 17.


Omphalocele is a relatively common developmental anomaly of the abdominal wall. Isolated omphalocele is generally regarded as a sporadic malformation with a negligible recurrence risk, although rare familial occurrences have been reported, compatible with AD, AR and XLR inheritance. Omphaloceles occurring in a syndromal context are strongly correlated with various types of chromosomal anomalies. Few monogenic syndromes have a high frequency of omphalocele. We report a family with facial dysmorphism somewhat reminiscent of Robinow syndrome (flat face, very short, upturned nose, very long and unusually wide philtrum, and flattened maxillary arch), observed in 3 generations. Four sibs in the second generations had large omphaloceles. One child had ectrodactyly. Genomic rearrangements, and WNT5A or ROR2 mutations were excluded in this family. At this point, we feel reasonable to consider this family as expressing a "new" syndrome related but different from Robinow syndrome, associating facial dysmorphism and abdominal wall defect, and compatible with dominant inheritance with variable expressivity, although recessively inherited omphalocele occurring in a family showing independently some dominant craniofacial peculiarities cannot be ruled out.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Chromosome Inversion
  • Chromosomes, Human, Pair 12 / genetics
  • Cytogenetic Analysis / methods
  • Diagnosis, Differential
  • Face / abnormalities*
  • Family Health
  • Female
  • Fingers / abnormalities
  • Fingers / pathology
  • Hand Deformities, Congenital / pathology
  • Hernia, Umbilical / pathology*
  • Humans
  • Limb Deformities, Congenital
  • Male
  • Pedigree
  • Syndrome

Supplementary concepts

  • Split hand foot deformity