Meckel syndrome

Common Name(s)

Meckel syndrome, Dysencephalia splanchnocystica, Meckel-Gruber 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.  
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Meckel syndrome" for support, advocacy or research.

Joubert Syndrome and Related Disorders Foundation

The mission of the Joubert Syndrome and Related Disorders Foundation is to support, educate, and serve individuals worldwide who are diagnosed with Joubert syndrome and other related disorders, and their families, friends, and caregivers. Our support networks create opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

Last Updated: 19 May 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Meckel syndrome" for support, advocacy or research.

Joubert Syndrome and Related Disorders Foundation

The mission of the Joubert Syndrome and Related Disorders Foundation is to support, educate, and serve individuals worldwide who are diagnosed with Joubert syndrome and other related disorders, and their families, friends, and caregivers. Our support networks create opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

http://www.jsrdf.org

Last Updated: 19 May 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Meckel syndrome" returned 40 free, full-text research articles on human participants. First 3 results:

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
 

Author(s): Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Maria Teresa Dotti, Mara Cavallin, László Sztriha, Rosario Ruta, Francesca Mancini, Tommaso Mazza, Stefano Castellana, Benrhouma Hanene, Maria Alessandra Carluccio, Francesca Darra, Adrienn Máté, Alíz Zimmermann, Neziha Gouider-Khouja, Enza Maria Valente

Journal:

 

Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the "molar tooth sign"), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also ...

Last Updated: 4 Jun 2014

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Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome.
 

Author(s): Seçil Kurtulmuş, Savaş Demirpençe, Deniz Can Öztekin, Altuğ Koç, Vedide Tavlı

Journal: Turk Kardiyol Dern Ars. 2014 Mar;42(2):182-5.

 

We aimed to present a fetus with Meckel-Gruber syndrome (MKS) who had left atrial isomerism, heterotaxy syndrome and complete heart block. A 26-year-old healthy female was referred to our clinic in the 23rd week of her pregnancy. The fetus had multiple systemic anomalies including ...

Last Updated: 19 Mar 2014

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Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3).
 

Author(s): Yanping Lu, Hongmei Peng, Zhanguo Jin, Jing Cheng, Shufang Wang, Minyue Ma, Yu Lu, Dongyi Han, Yuanqing Yao, Yali Li, Huijun Yuan

Journal:

 

Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD ...

Last Updated: 16 Sep 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Meckel syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development.
 

Author(s): Amy R Barker, Rhys Thomas, Helen R Dawe

Journal: Organogenesis. 2014 Jan;10(1):96-107.

 

The ciliopathies are a group of related inherited diseases characterized by malformations in organ development. The diseases affect multiple organ systems, with kidney, skeleton, and brain malformations frequently observed. Research over the last decade has revealed that these diseases ...

Last Updated: 14 May 2014

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Meckel syndrome.
 

Author(s): R Salonen, P Paavola

Journal: J. Med. Genet.. 1998 Jun;35(6):497-501.

 

Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases. Additional anomalies are frequent. A common characteristic ...

Last Updated: 14 Aug 1998

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
 

Status: Recruiting

Condition Summary: Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

 

Last Updated: 21 Jul 2015

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