Galloway-Mowat syndrome

Disease Overview

Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities.[10780][10781] Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability.[10781][10782] Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73 gene and is inherited in an autosomal recessive manner. Other, unknown genes may also be responsible.[10783] Affected children often do not survive beyond the first few years of life.[10782] Treatment is aimed at the specific signs and symptoms present in each individual.[10780]

Synonyms

• Galloway Mowat syndrome
• Galloway syndrome
• Microcephaly nephrosis syndrome
• Nephrosis neuronal dysmigration syndrome
• Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type
• Microcephaly, hiatal hernia, and nephrotic syndrome