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Diseases

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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Tests & Diagnosis


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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.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.