Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Galloway-Mowat Syndrome


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



    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
    • Epilepsy Foundation
      4351 Garden City Drive
      Landover MD 20785
      Phone #: 301-459-3700
      800 #: 800-332-1000
      e-mail: postmaster@efa.org
      Home page: http://www.epilepsyfoundation.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • NIH/National Kidney and Urologic Diseases Information Clearinghouse
      3 Information Way
      Bethesda MD 20892-3580
      Phone #: N/A
      800 #: 800-891-5390
      e-mail: nkudic@info.niddk.nih.gov
      Home page: http://kidney.niddk.nih.gov/
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/
    • National Kidney Foundation
      30 East 33rd Street
      New York NY 10016
      Phone #: 212-889-2210
      800 #: 800-622-9010
      e-mail: info@kidney.org
      Home page: http://www.kidney.org



    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