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

Meckel Syndrome


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 #: 301-519-3194
    800 #: 888-205-2311
    e-mail: gardinfo@nih.gov
    Home page: http://www.genome.gov/10000409
  • 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
    Bethesda MD 20892
    Phone #: 301-496-5133
    800 #: --
    e-mail: N/A
    Home page: http://www.nichd.nih.gov/



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