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VACTERL Association

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Marco Castori, MD, Clinical Geneticist, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy, for assistance in the preparation of this report.

Synonyms of VACTERL Association

  • VACTERLS association
  • VATER association
  • VATERS association

Disorder Subdivisions

  • No subdivisions found.

General Discussion

VACTERL association is a nonrandom association of birth defects that affects multiple median and para-median structures. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected children:

(V) = (costo-) vertebral abnormalities
(A) = anal atresia
(C) = cardiac (heart) defects
(TE) = tracheal-esophageal abnormalities, including atresia, stenosis and fistula
(R) = renal (kidney) and radial abnormalities
(L) = (non-radial) limb abnormalities
(S) = single umbilical artery

Variability of such associations is wide and the relevance of each component usually varies by the observers. For this reason, from an original nucleus of "VATER" anomalies, the subsequent observation of an increased rate of heart malformations (C), non-radial limb anomalies (L) and single umbilical artery (S) expanded the phenotypic continuum grouping together all these conditions (i.e. VATER, VACTER, VACTERL and VACTERLS associations). At the moment, VACTERL association is the most frequently used term to define this condition. In addition, to the above mentioned features, affected children may also exhibit pre- and/or post-natal growth deficiency with failure to gain weight and grow at the expected rate (failure to thrive). Further low-frequency findings include facial asymmetry (hemifacial microsomia), external ear malformations, lung lobation defects, intestinal malrotation and genital anomalies. VATER/VACTERL features are more common in twinning. In some cases, the acronym VATER association is used. Mental functioning and intelligence is usually unaffected; developmental delay/mental retardation should suggest an alternative diagnosis. The exact cause of VACTERL association is unknown. Most cases occur randomly, for no apparent reason (sporadic).

Organizations related to VACTERL Association

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