Meier-Gorlin syndrome

Common Name(s)

Meier-Gorlin syndrome

Meier-Gorlin syndrome is a condition that affects many parts of the body. This disorder is characterized by small ears, absent patellae (kneecaps), and short stature. There are several types of Meier-Gorlin syndrome, each classified by the specific genes affected. This condition has an autosomal recessive pattern of inheritance.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Meier-Gorlin syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 "Meier-Gorlin syndrome" returned 9 free, full-text research articles on human participants. First 3 results:

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
 

Author(s): Aimee L Fenwick, Maciej Kliszczak, Fay Cooper, Jennie Murray, Luis Sanchez-Pulido, Stephen R F Twigg, Anne Goriely, Simon J McGowan, Kerry A Miller, Indira B Taylor, Clare Logan, , Sevcan Bozdogan, Sumita Danda, Joanne Dixon, Solaf M Elsayed, Ezzat Elsobky, Alice Gardham, Mariette J V Hoffer, Marije Koopmans, Donna M McDonald-McGinn, Gijs W E Santen, Ravi Savarirayan, Deepthi de Silva, Olivier Vanakker, Steven A Wall, Louise C Wilson, Ozge Ozalp Yuregir, Elaine H Zackai, Chris P Ponting, Andrew P Jackson, Andrew O M Wilkie, Wojciech Niedzwiedz, Louise S Bicknell

Journal: Am. J. Hum. Genet.. 2016 Jul;99(1):125-38.

 

DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin syndrome (MGS), a disorder defined by the triad of short stature, ...

Last Updated: 9 Jul 2016

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De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
 

Author(s): Lindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, Jason R Willer, Erica E Davis, Dorien Lugtenberg, Wenmiao Zhu, Magalie S Leduc, Zeynep C Akdemir, Mahshid Azamian, Gladys Zapata, Patricia P Hernandez, Jeroen Schoots, Sonja A de Munnik, Ronald Roepman, Jillian N Pearring, Shalini Jhangiani, Nicholas Katsanis, Lisenka E L M Vissers, Han G Brunner, Arthur L Beaudet, Jill A Rosenfeld, Donna M Muzny, Richard A Gibbs, Christine M Eng, Fan Xia, Seema R Lalani, James R Lupski, Ernie M H F Bongers, Yaping Yang

Journal: Am. J. Hum. Genet.. 2015 Dec;97(6):904-13.

 

Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. Mutations in these genes cause disruption ...

Last Updated: 7 Dec 2015

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A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association.
 

Author(s): Wei Zhang, Saumya Sankaran, Or Gozani, Jikui Song

Journal: ACS Chem. Biol.. 2015 May;10(5):1176-80.

 

Recent studies have identified several genetic mutations within the BAH domain of human Origin Recognition Complex subunit 1 (hORC1BAH), including the R105Q mutation, implicated in Meier-Gorlin Syndrome (MGS). However, the pathological role of the hORC1 R105Q mutation remains unclear. ...

Last Updated: 15 May 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 "Meier-Gorlin syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Meier-Gorlin syndrome.
 

Author(s): Sonja A de Munnik, Elisabeth H Hoefsloot, Jolt Roukema, Jeroen Schoots, Nine V A M Knoers, Han G Brunner, Andrew P Jackson, Ernie M H F Bongers

Journal:

 

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia ...

Last Updated: 19 Sep 2015

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.