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 48 free, full-text research articles on human participants. First 3 results:

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
 

Author(s): Christopher M Watson, Laura A Crinnion, Ian R Berry, Sally M Harrison, Carolina Lascelles, Agne Antanaviciute, Ruth S Charlton, Angus Dobbie, Ian M Carr, David T Bonthron

Journal:

 

The widespread adoption of high-throughput sequencing technologies by genetic diagnostic laboratories has enabled significant expansion of their testing portfolios. Rare autosomal recessive conditions have been a particular focus of many new services. Here we report a cohort of 26 ...

Last Updated: 5 Jan 2016

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Cushing syndrome secondary to ectopic adrenocorticotropic hormone secretion from a Meckel diverticulum neuroendocrine tumor: case report.
 

Author(s): Diana Loreta Paun, Lavinia Vija, Emilia Stan, Alexandra Banica, Elena Bobeica, Dana Terzea, Catalina Poiana, Corin Badiu, Sorin Paun

Journal:

 

Ectopic production of adrenocorticotropic hormone (ACTH) by neuroendocrine tumours (NET) is a rare condition, occult presentations often hampering the diagnosis. Although NET are relatively frequent in the ileon and Meckel diverticulum, we describe the first Cushing's syndrome due ...

Last Updated: 27 Nov 2015

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A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.
 

Author(s): Manli Zhang, Jing Cheng, Aijun Liu, Longxia Wang, Lihua Xiong, Meixia Chen, Yi Sun, Jianzhong Li, Yu Lu, Huijun Yuan, Yali Li, Yanping Lu

Journal:

 

Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive condition characterized by renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. Genetic ...

Last Updated: 20 Jul 2015

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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 3 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: genetics, perinatal findings, and differential diagnosis.
 

Author(s): Chih-Ping Chen

Journal: Taiwan J Obstet Gynecol. 2007 Mar;46(1):9-14.

 

Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, ...

Last Updated: 28 Mar 2007

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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 Genetics Home Reference.

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: 23 Aug 2016

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