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Galloway-Mowat Syndrome

Abstract

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Synonyms of Galloway-Mowat Syndrome

  • Galloway Syndrome
  • Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type
  • Microcephaly-Hiatal Hernia-Nephrosis, Galloway Type
  • Microcephaly-Hiatal Hernia-Nephrotic Syndrome
  • Nephrosis-Microcephaly Syndrome
  • Nephrosis-Neuronal Dysmigration Syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Galloway-Mowat Syndrome, which is also known as Microcephaly-Hiatal Hernia-Nephrotic Syndrome, is an extremely rare genetic disorder that is characterized by a variety of physical and developmental abnormalities. Physical features may include an unusually small head (microcephaly) and additional abnormalities of the head and facial (craniofacial) area; damage to clusters of capillaries in the kidneys (focal glomerulosclerosis and/or diffuse mesangial sclerosis), resulting in abnormal kidney function (Nephrotic Syndrome); and, in many cases, protrusion of part of the stomach through an abnormal opening (esophageal hiatus) in the diaphragm (hiatal hernia). Additional physical abnormalities are often present. These may include various malformations of the brain, seizures, diminished muscle tone throughout the body (generalized hypotonia), and/or increased reflex reactions (hyperreflexia). Infants and children with Galloway-Mowat Syndrome may also exhibit developmental abnormalities including an inability to perform certain movement (motor) skills normal for their age and a profound delay in the attainment of skills requiring the coordination of muscular and mental activity (psychomotor retardation). Mental retardation may also be present. Galloway-Mowat Syndrome is inherited as an autosomal recessive trait.

Organizations related to Galloway-Mowat Syndrome

Please note that some of these organizations may provide information concerning certain conditions (e.g., Microcephaly, Hiatal Hernia, or Nephrotic Syndrome) potentially associated with this disorder.

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