Abstract 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 V
