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Meckel Syndrome

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Copyright 1989, 1996, 2003



Synonyms of Meckel Syndrome
  • Dysencephalia Splanchnocystica
  • Gruber Syndrome
  • Meckel-Gruber Syndrome
  • MES
  • MKS

Disorder Subdivisions

  • Meckel Syndrome Type 1
  • Meckel Syndrome Type 2
  • Meckel Syndrome Type 3


General Discussion
Meckel syndrome is a rare inherited disorder characterized by abnormalities affecting several organ systems of the body (multisystem). Three classic symptoms are normally associated with Meckel syndrome: protrusion of a portion of the brain and its surrounding membranes (meninges) through a defect in the back or front of the skull (occipital encephalocele), multiple cysts on the kidneys (polycystic kidneys), and extra fingers and/or toes (polydactyly). Affected children may also have abnormalities affecting the head and face (craniofacial area), liver, lungs, and genitourinary tract. Meckel syndrome is inherited as an autosomal recessive trait.
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Organizations related to Meckel Syndrome
  • Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg MD 20898-8126
    Phone #: 301-251-4925
    800 #: 888-205-2311
    e-mail: ordr@od.nih.gov
    Home page: http://rarediseases.info.nih.gov/Default.aspx
  • 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/
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: getinfo@madisonsfoundation.org
    Home page: http://www.madisonsfoundation.org
  • NIH/National Institute of Child Health and Human Development
    31 Center Dr
    Building 31, Room 2A32
    MSC2425
    Bethesda MD 20892
    Phone #: 301-496-5133
    800 #: --
    e-mail: N/A
    Home page: http://www.nichd.nih.gov/

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Last modified Wednesday, November 26, 2008