PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects

Am J Med Genet. 1993 Nov 1;47(6):807-11. doi: 10.1002/ajmg.1320470602.


We have studied 2 sibs with vertebral, radial, congenital heart, and ear defects. The second patient also had limb pterygia and meningomyelocele. The abnormalities in these two sibs are seen in the VATER association; however, distinguishing these cases from the VATER association are the findings of pterygia, meningomyelocele, and probable autosomal recessive inheritance. We propose the acronym PHAVER syndrome for limb pterygia, heart defects, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. This represents a new autosomal recessive disorder with phenotypic variability.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abortion, Induced
  • Adult
  • Female
  • Fetus / abnormalities
  • Genes, Recessive*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Pregnancy
  • Syndrome