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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



What is Meckel syndrome?

How is Meckel syndrome diagnosed?


What is Meckel syndrome?

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

How is Meckel syndrome diagnosed?

Prenatal ultrasound is currently the best method to diagnose Meckel syndrome. The brain abnormalitiy called occipital encephalocele can often be seen starting late in the first trimester. Large cysts on the kidneys can also be seen on an ultrasound, although if there is too little amniotic fluid (oligohydramnios) it make it difficult to detect problems with the kidneys. Experienced ultrasonographers may be able to detect the presence of extra fingers or toes (polydactyly) in the second trimester if oligohydramnios is not present.[1]

A chorionic villus sampling (CVS) or amniocentesis may be performed to confirm the diagnosis. Chorionic villus sampling can be performed at 10-12 weeks and amniocentesis after 14 weeks of pregnancy. If there is not enough amniotic fluid to perfom an amniocentesis, a chorionic villus sampling can be performed instead.[1]
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.