Galloway-Mowat Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Galloway-Mowat Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Galloway-Mowat syndrome is an extremely rare genetic disorder that is characterized by a variety of physical and developmental abnormalities, particularly neurological abnormalities and early onset progressive kidney disease. Physical features may include microcephaly, (a condition that indicates that the head circumference is significantly smaller than would be expected based upon an infant's age and gender) and, in some cases, protrusion of part of the stomach through an abnormal opening in the diaphragm (hiatal hernia). Neurological abnormalities can include: various malformations of the brain, seizures, muscle spasms and abnormal movements (dystonia), diminished muscle tone throughout the body (generalized hypotonia), and visual impairment and abnormal eye movements (nystagmus). Infants and children exhibit a delay in obtaining developmental milestones. The majority of affected children do not obtain independent sitting or ambulation or the acquisition of any purposeful hand use or verbal communication. Severe/profound intellectual disability is typically present. Kidney disease is characterized by damage to the clusters of capillaries in the kidneys (focal glomerulosclerosis and/or diffuse mesangial sclerosis) resulting in loss of protein in the urine and abnormal kidney function with associated swelling of the face and peripheries resistant to current medical treatment (steroid resistant nephrotic syndrome). Most affected individuals do not survive beyond teenage years, with the commonest causes of death being nephrotic syndrome or seizures. Galloway-Mowat syndrome appears to be genetically heterogeneous and is believed to be inherited in an autosomal recessive manner, a significant proportion of cases identified to date have been shown to be caused by biallelic alterations (mutations) in the WDR73 gene.
Introduction
Galloway-Mowat syndrome was first described in the medical literature in 1968 in two siblings who had microcephaly, hiatal hernia and kidney disease. Consequently, the disorder was also known as microcephaly-hiatal hernia-nephrotic syndrome. However, additional reports of this disorder have shown that affected individuals have neurological manifestations and kidney disease (nephrotic syndrome) as the main characteristics. Hiatal hernia is no longer considered a "key" feature of the disorder since it does not occur in many affected children.
In 2014, autosomal recessive loss of function mutations in the WDR73 gene were found to account for a significant proportion of Galloway-Mowat syndrome cases.

Supporting Organizations

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Website: http://www.ninds.nih.gov/

NIH/National Kidney and Urologic Diseases Information Clearinghouse

3 Information Way
Bethesda, MD 20892-3580
Fax: (703)738-4929
Tel: (800)891-5390
Email: nkudic@info.niddk.nih.gov
Website: http://www.kidney.niddk.nih.gov/

National Kidney Foundation

30 East 33rd Street
New York, NY 10016
Tel: (212)889-2210
Fax: (212)689-9261
Tel: (800)622-9010
Email: info@kidney.org
Website: http://www.kidney.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

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This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  5/9/2016
Copyright  2016 National Organization for Rare Disorders, Inc.