FAM170A has been linked with VATER/VACTERL Association43, which is defined by the systematic concurrence of vertebral defects (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula with or without oesophageal atresia (TE), renal abnormalities (R), and limb anomalies (L)26. Here, FAM170A is linked to imperforate anus.