VACTERL association

Overview

Type of disease: Rare conditions

VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart) defects; (T) = tracheal anomalies including tracheoesophageal (TE) fistula; (E) = esophageal atresia; (R) = renal (kidney) and radial (thumb side of hand) abnormalities; and (L) = other limb abnormalities. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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