Background Intestinal malrotation is a potentially life‐threatening congenital anomaly due to the risk of developing midgut volvulus. The reported incidence is 0.2%–1% and both apparently hereditary and sporadic cases have been reported. Intestinal malrotation is associated with a few syndromes with known genotype but the genetic contribution in isolated intestinal malrotation has not yet been reported. Rare copy number variants (CNVs) have been implicated in many congenital anomalies, and hence we sought to investigate the potential contribution of rare CNVs in intestinal malrotation. Methods Analysis of array comparative genomic hybridization (aCGH) data from 47 patients with symptomatic intestinal malrotation was performed. Results We identified six rare CNVs in five patients. Five CNVs involved syndrome loci: 7q11.23 microduplication, 16p13.11 microduplication, 18q terminal deletion, HDAC8 (Cornelia de Lange syndrome type 5 and FOXF1 ) as well as one intragenic deletion in GALNT14 , not previously implicated in human disease. Conclusion In the present study, we identified rare CNVs contributing pathogenic or potentially pathogenic alleles in five patients with syndromic intestinal malrotation, suggesting that CNV screening is indicated in intestinal malrotation with associated malformations or neurological involvements. In addition, we identified intestinal malrotation in two known syndromes (Cornelia de Lange type 5 and 18q terminal deletion syndrome) that has not previously been associated with gastrointestinal malformations.

Introduction Intestinal malrotation (IM) is characterized by abnormal intestinal rotation and fixation predisposing to a risk of midgut volvulus. The aim of this study was to describe the clinical presentation and outcome of IM from birth through childhood. Materials and Methods This was a retrospective study of children with IM managed at a single center between 1983 and 2016. Data were retrieved from medical records and analyzed. Results Three hundred nineteen patients were eligible for the study. Using strict inclusion and exclusion criteria, 138 children were included. Vomiting was the most common symptom up to 5 years of age. At 6 to 15 years of age, abdominal pain was the predominant symptom. One hundred twenty-five patients underwent a Ladd's procedure and of 124 patients with available data, 20% had a postoperative complication (Clavien-Dindo IIIb-V) within 30 days. The odds ratio to develop postoperative complications was significantly increased in extremely preterm patients (p = 0.001) and in patients with severely affected intestinal circulation (p = 0.006). Two patients had intestinal failure due to midgut loss after midgut volvulus, one of whom needed intestinal transplantation. Four patients, all extremely preterm, died related to the surgical procedure. In addition, seven patients died of reasons not related to IM. Fourteen patients (11%) had adhesive bowel obstruction and one patient had recurrent midgut volvulus requiring surgical treatment. Conclusions IM presents with different symptoms through childhood depending on age. Postoperative complications are common after Ladd's procedure, particularly among extremely preterm infants and patients with severely affected circulation caused by midgut volvulus.