Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy

Am J Med Genet. 1993 Aug 15;47(2):250-4. doi: 10.1002/ajmg.1320470221.


The combination of microcephaly, gyral abnormalities, developmental delay, and a glomerulopathy constitutes a recognizable syndrome. The inheritance is autosomal recessive. Additional abnormalities may include seizures, minor facial anomalies, and hiatal hernia. Onset of proteinuria often occurs in the first 3 months of life, but always before age 3 years. A uniform pattern of renal histologic changes has not been found. There is no effective treatment for the neurologic or renal manifestations of this condition. The prognosis is extremely poor; every patient but one has died before age 5 1/2 years. Antenatal diagnosis may be possible.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Fatal Outcome
  • Female
  • Genes, Recessive
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Microcephaly / genetics*
  • Nephrotic Syndrome / congenital*
  • Nephrotic Syndrome / genetics
  • Syndrome