Galloway-Mowat syndrome (GMS), also known as Microcephaly-Hiatal Hernia-Nephrotic syndrome, is an extremely rare genetic disorder that is characterized by the association of nephrotic syndrome and central nervous system anomalies. Approximately 40 cases have been reported to date with Galloway-Mowat syndrome. Physical features may include microcephaly, craniofacial abnormalities, focal glomerulosclerosis and/or diffuse mesangial sclerosis, resulting in nephrotic syndrome; and in many cases, esophageal hiatus in the diaphragm; hiatal hernia. The nephrotic syndrome is mostly resistant to any form of treatment and progresses to end-stage renal failure. Neurological symptoms include microcephaly, psychomotor retardation, convulsions, hypotonia, abnormal cerebral giri and sulci, cortical atrophy, hydrocephalus due to aqueductal stenosis, porencephaly or encephalomalacia. Mental retardation may also be present. Galloway syndrome is inherited as an autosomal recessive trait thought to be caused by mutations in the WD Repeat-Containing Protein 73 (WDR73) gene.