VATER is an acronym for vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial dysplasia. Cases are isolated (no familial agregation).

Nonrandom association of following anomalies: V (vertebral anomalies), A (anal atresia), C (cardiovascular anomalies), T (tracheoesophageal fistula), E (esophageal atresia), R (renal anomalies), L (preaxial limb anomalies). Diagnosis made if 3/7 defects are present

Epidemiology

 Seen more frequently in infants of diabetic mothers
 Estimated frequency 1.6 cases/10,000 live births

Synopsis

 failure to thrive
 prenatal growth deficiency
 postnatal growth deficiency

 large fontanels

 cardiovascular anomalies

• ventricular septal defects
• patent ductus arteriosus
• tetralogy of Fallot
• transposition of the great arteries

 airways anomalies

• choanal atresia
• laryngeal stenosis
• tracheal agenesis

 thoracic anomalies

• costal anomalies (rib anomalies)
• sternal anomalies

 digestive anomalies

• esophageal atresia
• tracheoesophageal fistula
• esophageal atresia
• duodenal atresia
• anorectal agenesia
• anal atresia (imperforate anus) +/- perineal fistula

 fetal urogenital anomalies

• urethral atresia
• hypospadias
• renal aplasia
• renal dysplasia
• hydronephrosis
• renal ectopia
• vesicoureteral reflux
• ureteropelvic junction obstruction
• persistent urachus

 fetal vertebral anomalies

• hemivertebrae
• small cleft in vertebrae
• scoliosis

 fetal limb anomalies

• radial dysplasia, radial aplasia, radial hypoplasia
• humeral hypoplasia
• proximally placed thumb
• radioulnar synostosis
• thumb hypoplasia
• preaxial polydactyly (hexadactyly)
• syndactyly
• triphalangeal thumb

 fetal neurological anomalies

• hydrocephalus (germline PTEN mutation) (#11748304#)
  • hydrocephalus secondary to aqueductal stenosis

• tethered cord
• spinal dysrhaphia
• occipital encephalocele

 single umbilical artery

Variants

 autosomal recessive VACTERL-hydrocephaly syndrome (David-O'Callaghan syndrome) (MIM.276950) (PTEN mutations)
 X-linked recessive VACTERL-hydrocephaly syndrome (Hunter-MacMurray syndrome) (MIM.314390)

Etiology

 unknown
 anomalies in the sonic hedgehog signaling pathway (SHH) (MIM.600725) ?
 PTEN mutations in autosomal recessive VACTERL-hydrocephaly syndrome (VACTERL-H syndrome) (David-O'Callaghan syndrome) (MIM.276950)