The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect

Am J Med Genet. 1987 Jan;26(1):59-64. doi: 10.1002/ajmg.1320260111.


We report on two sib fetuses with similar abnormalities detected prenatally by ultrasound. The first fetus had micrognathia, was without cleft palate, and had low-set ears, double outlet right ventricle with a ventricular septal defect, and 46,XY gonadal dysgenesis. The second sib fetus was born with cleft lip and palate, micrognathia, transposition of the great vessels, ventricular septal defect, a right-sided aorta arch, and bilateral cystic kidneys with hypospadias. We were able to identify 11 additional cases in the literature with similar findings. We think this set of defects is a recognizable syndrome that appears to be inherited either as an autosomal recessive or as an X-linked recessive and may overlap with the Smith-Lemli-Opitz syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Cleft Palate / genetics*
  • Disorders of Sex Development / genetics*
  • Female
  • Genes, Recessive
  • Genetic Linkage
  • Heart Defects, Congenital / genetics*
  • Humans
  • Male
  • Micrognathism / genetics*
  • Pregnancy
  • Prenatal Diagnosis
  • Syndrome
  • X Chromosome