THE GENETIC DIVERSITY OF SYNDROMIC ANAL ATRESIA

Abstract

It is accepted that vertebral, anal, tracheo-esophageal, renal and radial defects concur nonrandomly (the VATER “association”). Recently, the association has been “extended” to include cardiac, external genital and “other” (usually preaxial) limb anomalies. Despite repeated allusion to the etiologic heterogeneity that must underlie an inconstant association of such breadth, the universal appeal of classificatory labels has resulted in a growing tendency to exploit the VATER association as a definitive diagnosis for any child with an anorectal anomaly and at least one other defect typical of the association. Since VATER patients are mostly sporadic, indiscriminate use of the VATER diagnosis can lead to faulty genetic counseling. The purpose of this communication is to publicise six individually-rare patterns of malformation that include anorectal anomalies and have a high risk of recurrence. These patterns extend from familial expression of typical VATER association anomalies to those in which an anorectal anomaly and at least one other VATER defect coexist as components of familial syndromes that are otherwise distinctive. The latter include: (1) the Johanson-Blizzard syndrome (s); (2) the esophageal-facial-genital (“G”) s.; (3) the s. of sacrum defects, anterior sacral meningocoele and anal malformation; (4) the cat eye s.; (5) the s. of imperforate anus, hand, foot and ear anomalies; (6) the s. of covered (anteriorly displaced) anus, preauricular skin tags and broad (bifid) thumbs. The VATER label is helpful for genetic prognosis only as a diagnosis of exclusion.