Print friendly version
Meckel syndrome
Other Names for this Disease
- Dysencephalia splachnocystica
- Gruber syndrome
- Meckel Gruber syndrome
- MKS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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]
References
- Bhagwati Jayakar P, Spiliopoulos M, Jayakar A. Meckel-Gruber Syndrome. eMedicine Journal. http://emedicine.medscape.com/article/946672-overview. Accessed May 30, 2012.
- Meckel Syndrome. National Organization for Rare Disorders (NORD). http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract. Accessed May 30, 2012.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Meckel syndrome have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Meckel syndrome. Click on the link to go to GHR and review the 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 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Meckel syndrome. Click on the link to go to OMIM and review these resources.