Important

It is possible that the main title of the report Galloway Mowat Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

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

Disorder Subdivisions

None

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.