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Genetic and Rare Diseases Information Center (GARD)

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Meckel syndrome


Other Names for this Disease
  • Dysencephalia splachnocystica
  • Gruber syndrome
  • Meckel Gruber syndrome
  • MKS
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Overview


Meckel syndrome is a very severe disorder that is characterized by multiple cysts on the kidneys, protrusion of a portion of the brain through an opening in the skull (occipital encephalocele), and extra fingers or toes (polydactyly). Affected children may also have abnormalities affecting the head and face, liver, lungs, genitals, and urinary tract. Because of these serious health problems, most infants with Meckel syndrome do not survive for long after birth. Meckel syndrome is caused by mutations in one of eight genes, and it is inherited in an autosomal-recessive manner.[1][2] 
Last updated: 5/30/2012

References

  1. Bhagwati Jayakar P, Spiliopoulos M, Jayakar A. Meckel-Gruber Syndrome. eMedicine Journal. September 22, 2011; http://emedicine.medscape.com/article/946672-overview. Accessed 5/30/2012.
  2. Meckel Syndrome. National Organization for Rare Disorders (NORD). April 12, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract. Accessed 5/30/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Meckel syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Meckel syndrome. Click on the link to view a sample search on this topic.