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VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
ORPHA:887Classification level: Disorder
Exact prevalence and incidence data are not available due to variable diagnostic criteria, but the association has been reported to occur in <1-9/100,000 infants, and the annual incidence has been reported to be 1/10,000 to 1/40,000 live births. No specific geographic distribution or predominance in certain ethnic groups has been found.
A cluster of congenital malformations is found at birth or in the first days of life and includes at least three component features: vertebral defects (60-80% of patients), commonly accompanied by rib anomalies; imperforate anus/anal atresia (55-90%); cardiac defects (40-80%); tracheo-esophageal fistula (50-80%), with or without esophageal atresia; renal anomalies (50-80%) including renal agenesis, horsehoe kidney, and cystic and/or dysplastic kidneys; and limb abnormalities (40-50%). Limb defects are classically defined as radial anomalies, including thumb aplasia/hypoplasia, and have variable degrees of severity; other types of limb anomalies have also been reported. While the above malformations are considered to be the core component features, many other malformations have been described in affected patients. These non-typical malformations should be used as clues in considering other possible conditions.
The etiology of VACTERL/VATER is unknown and the association is largely sporadic. A high degree of clinical and causal heterogeneity, and familial clustering, suggestive of inherited factors, have been reported.
Diagnosis of VACTERL/VATER association is based on the clinical picture at birth.
Differential diagnosis includes Baller-Gerold syndrome, CHARGE syndrome, Currarino disease, 22q11.2 microdeletion syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vertebral sprectrum, Opitz G/BBB syndrome, Pallister-Hall syndrome, Townes-Brocks syndrome, and VACTERL with hydrocephalus (see these terms).
Antenatal diagnosis can be challenging, as certain component features can be difficult to ascertain prior to birth.
Management and treatment
Management typically centers around surgical correction of the specific congenital anomalies (typically anal atresia, certain types of cardiac malformations, and/or tracheo-esophageal fistula) in the immediate postnatal period, followed by long-term medical management of sequelae of the congenital malformations.
If optimal surgical correction is achievable, the prognosis can be relatively good, though some patients will continue to be affected by their congenital malformations throughout life. Importantly, patients with VACTERL association do not tend to have neurocognitive impairment.