VACTERL association is a congenital disorder that was named using an acronym: Vertebral defects, Anal atresia, Tracheo-Esophageal (TE) fistula with esophageal atresia, Radial and Renal dysplasia, and Limb anomalies. Since these early descriptions, the definition of VACTERL association in the medical literature has been problematic for a number of reasons. Here we propose a detailed clinical evaluation of patients with this birth defect at the NIH Clinical Center to better define the phenotype of this association. To identify the underlying genetic etiologies, we propose multiple genetic tests including candiate gene testing and and genomic (eg, whole exome and whole genome) sequencing in selected patients. Identification of genes involved in the etiology of VACTERL association will increase our understanding of normal and abnormal development during early embryogenesis.

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Human Genome Research
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Cunningham, Bridget K; Khromykh, Alina; Martinez, Ariel F et al. (2014) Analysis of renal anomalies in VACTERL association. Birth Defects Res A Clin Mol Teratol 100:801-5
Saisawat, Pawaree; Kohl, Stefan; Hilger, Alina C et al. (2014) Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. Kidney Int 85:1310-7
Solomon, B D; Pineda-Alvarez, D E; Hadley, D W et al. (2013) Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association. Mol Syndromol 4:27-31
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Solomon, Benjamin D; Patel, Ankita; Cheung, Sau Wai et al. (2011) VACTERL association and mitochondrial dysfunction. Birth Defects Res A Clin Mol Teratol 91:192-4
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Solomon, Benjamin D; Pineda-Alvarez, Daniel E; Raam, Manu S et al. (2010) Evidence for inheritance in patients with VACTERL association. Hum Genet 127:731-3