VATER association

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
 preauricular tag

 cardiovascular anomalies

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

 airways anomalies

• choanal atresia
• laryngeal stenosis
• tracheal agenesis
• ectopic bronchus
• pulmonary 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
• bilateral hydronephrosis
• unilateral hydronephrosis
• renal ectopia
• vesicoureteral reflux
• ureteropelvic junction obstruction
• persistent urachus

 fetal vertebral anomalies

• hemivertebrae
• small cleft in vertebrae
• scoliosis
• costal anomalies

 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)

References

 Botto LD, Khoury MJ, Mastroiacovo P, Castilla EE, Moore CA, Skjaerven R, Mutchinick OM, Borman B, Cocchi G, Czeizel AE, Goujard J, Irgens LM, Lancaster PA, Martinez-Frias ML, Merlob P, Ruusinen A, Stoll C, Sumiyoshi Y. The spectrum of congenital anomalies of the VATER association: an international study. Am J Med Genet. 1997 Jul 11;71(1):8-15. PMID: 9215761