Meckel Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Meckel Syndrome is not the name you expected.

Disorder Subdivisions

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General Discussion

Meckel syndrome is a rare inherited disorder characterized by abnormalities affecting several organ systems of the body. 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 of the skull (occipital encephalocele), multiple cysts on the kidneys (cystic kidneys), and extra fingers and/or toes (polydactyly). Affected children or fetuses may also have abnormalities affecting the head and face (craniofacial area), liver, lungs, heart, and genitourinary tract. Meckel syndrome is inherited as an autosomal recessive condition through thirteen genes: B9D1, B9D2, CC2D2A, CEP290, MKS1, RPGRIP1L, TCTN2, TCTN3, TMEM67, TMEM107, TMEM216, TMEM231 and TMEM237.

Most fetuses affected with Meckel syndrome die before birth due to a lack of amniotic fluid surrounding the fetus (oligohydramnios) or incomplete development of the lungs (pulmonary hypoplasia). Because of these serious health problems, infants that are born do not survive longer than a few days or weeks. Most affected infants die of kidney failure or respiratory problems.

The first report of Meckel syndrome was published by Johann Friedrich Meckel in 1822. In 1934, G.B. Gruber published reports on individuals with Meckel syndrome and named the disorder dysencephalia splanchnocystica.

Supporting Organizations

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

NIH/National Institute of Child Health and Human Development

31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Fax: (866)760-5947
Tel: (800)370-2943

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

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Last Updated:  7/6/2016
Copyright  2016 National Organization for Rare Disorders, Inc.