VATER association
MIM.192350
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
- hemivertebrae
- small cleft in vertebrae
- scoliosis
- costal 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