Meckel syndrome

Common Name(s)

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.  
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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

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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Aberrant Wnt signalling and cellular over-proliferation in a novel mouse model of Meckel-Gruber syndrome.
 

Author(s): Gabrielle Wheway, Zakia Abdelhamed, Subaashini Natarajan, Carmel Toomes, Chris Inglehearn, Colin A Johnson

Journal: Dev. Biol.. 2013 May;377(1):55-66.

 

Meckel-Gruber syndrome (MKS) is an embryonic lethal ciliopathy resulting from mutations in genes encoding proteins localising to the primary cilium. Mutations in the basal body protein MKS1 account for 7% of cases of MKS. The condition affects the development of multiple organs, including ...

Last Updated: 17 Apr 2013

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The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity.
 

Author(s): Amanda C Leightner, Cynthia J Hommerding, Ying Peng, Jeffrey L Salisbury, Vladimir G Gainullin, Peter G Czarnecki, Caroline R Sussman, Peter C Harris

Journal: Hum. Mol. Genet.. 2013 May;22(10):2024-40.

 

Meckel syndrome (MKS) is a lethal disorder associated with renal cystic disease, encephalocele, ductal plate malformation and polydactyly. MKS is genetically heterogeneous and part of a growing list of syndromes called ciliopathies, disorders resulting from defective cilia. TMEM67 ...

Last Updated: 24 Apr 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 1 free, full-text review articles on human participants. First 3 results:

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

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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: 12 Jan 2014

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