Galloway-Mowat Syndrome

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.

Resources

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

Internet: http://www.kidney.org



Epilepsy Foundation

4351 Garden City Drive

Landover, MD 20785

Tel: (301)459-3700

Fax: (301)577-2684

Tel: (800)332-1000

TDD: (800)332-2070

Email: postmaster@efa.org

Internet: http://www.epilepsyfoundation.org



National Institute of Neurological Disorders and Stroke (NINDS)

31 Center Drive

8A07

Bethesda, MD 20892-2540

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Email: braininfo@ninds.nih.gov

Internet: http://www.ninds.nih.gov/



NIH/National Kidney and Urologic Diseases Information Clearinghouse

3 Information Way

Bethesda, MD 20892-3580

Tel: (800)891-5390

Email: nkudic@info.niddk.nih.gov

Internet: http://kidney.niddk.nih.gov/



MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network

150 Custer Court

Green Bay, WI 54301-1243

USA

Tel: (920)336-5333

Fax: (920)339-0995

Tel: (877)336-5333

Email: mums@netnet.net

Internet: http://www.netnet.net/mums/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  3/16/2008

Copyright  1996, 2002 National Organization for Rare Disorders, Inc.