Familial recurrence of gastroschisis: literature review and data from the population-based birth registry "Mainz Model"

J Pediatr Surg. 2010 Sep;45(9):1907-12. doi: 10.1016/j.jpedsurg.2010.05.003.


Background: Familial forms of gastroschisis are considered rare. A search for these forms in a population-based birth registry in 1993 found a recurrence risk of 3.5% among first-degree relatives. Since then, similar investigations in population-based registries have led to contradictory results.

Methods: A search of the population-based birth registry "Mainz Model" for familial cases of gastroschisis and a systematic review of the literature were performed.

Results: The Mainz Model database yielded 1 familial recurrence out of 27 gastroschisis cases. From the literature, 37 affected families could be retrieved. Among 412 gastroschises from population-based registries, 10 familial recurrences have been found. These translate into a recurrence risk of 2.4%, with a strong tendency toward underestimation.

Conclusion: The existing data support the hypothesis that familial recurrence of gastroschisis is much more likely than previously thought.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Family
  • Gastroschisis / epidemiology*
  • Humans
  • Registries*