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VATER association

MIM.192350

Monday 17 May 2004

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#