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

A rare case of Meckel-Gruber syndrome.
 

Author(s): Daniela Veronica Chiriac, Lavinia Maria Hogea, Ana Cristina Bredicean, Robert Rednic, Laura Alexandra Nussbaum, Gheorghe Bogdan Hogea, Mirela Loredana Grigoraş

Journal: Rom J Morphol Embryol. 2017 ;58(3):1023-1027.

 

Meckel-Gruber syndrome (MKS) is a lethal, autosomal recessive transmitted anomaly, characterized by the ultrasound triad: occipital meningoencephalocele, bilateral polycystic kidney, postaxial polydactyly. The incidence is between 1÷13 250 and 1÷140 000 live births, being a rare ...

Last Updated: 31 Dec 1969

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Meckel-Gruber syndrome: ultrasonographic and fetal autopsy correlation.
 

Author(s): Shruti Khurana, Vikram Saini, Vibhor Wadhwa, Harveen Kaur

Journal:

 

Meckel-Gruber syndrome (MGS) is a rare autosomal recessive disorder which is characterized by a classic triad of occipital encephalocele, polycystic kidneys and postaxial polydactyly. We describe a case of classic MGS, diagnosed on ultrasonography and genetic analysis, with subsequent ...

Last Updated: 31 Dec 1969

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Asymmetric Meckel Cave Enlargement: A Potential Marker of PHACES Syndrome.
 

Author(s): J N Wright, V Wycoco

Journal: AJNR Am J Neuroradiol. 2017 Jun;38(6):1223-1227.

 

PHACES syndrome is a complex of morphologic abnormalities of unknown cause and includes posterior fossa abnormalities; head and neck infantile hemangiomas; arterial, cardiac, and eye anomalies; and sternal or abdominal wall defects. Accurate identification of the syndrome is important ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 15 Sep 2017

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