Meckel Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Meckel Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • 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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Resources

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda, MD 20892
Tel: (301)496-5133
Fax: (301)496-7101
Internet: http://www.nichd.nih.gov/

MUMS 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/

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
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

For a Complete Report

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

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