Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted

Desiree Hondel, CHW Wijers, Yolande Bever, Annelies de Klein, CLM Marcelis, Ivo Blaauw, C.E.J. Sloots, Hanneke IJsselstijn

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The objective of this study was to compare the prevalence of genetic disorders in anorectal malformation (ARM) patients with upper limb anomalies to that in ARM patients with other associated anomalies. A retrospective case study was performed in two pediatric surgery centers. All patients born between 1990 and 2012 were included. VACTERL (vertebral defects (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R), and limb anomalies (L)) was defined as at least three components present. We included 700 ARM patients: 219 patients (31 %) had isolated ARM, 43 patients (6 %) had a major upper limb anomaly, and 438 patients (63 %) had other associated anomalies. The most prevalent upper limb anomalies were radial dysplasia (n = 12) and hypoplastic thumb (n = 11). Ten of the 43 patients (23 %) with an upper limb anomaly were diagnosed with a genetic disorder-nine also met the VACTERL criteria-vs. 9 % of ARM patients with other anomalies (p = 0.004, chi-squared test). Conclusion: Genetic disorders are twice as frequently diagnosed in ARM patients with upper limb anomalies than in those with other anomalies. As they also frequently meet the VACTERL criteria, it is important to consider VACTERL as a diagnosis per exclusionem. Genetic counseling is certainly warranted in these patients.
Original languageUndefined/Unknown
Pages (from-to)489-497
Number of pages9
JournalEuropean Journal of Pediatrics
Issue number4
Publication statusPublished - 2016

Research programs

  • EMC MGC-02-53-01-A
  • EMC MGC-02-96-01

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