Meier-Gorlin syndrome

What causes Meier-Gorlin syndrome?

Meier-Gorlin syndrome (MGS) is caused by genetic changes (mutations) in one of eight different genes. MGS, type 1 is caused by mutations in the ORC1 gene on chromosome 1p32. MGS type 2 is caused by mutations in the ORC4 gene on chromosome 2q22-q23. MGS type 3 is caused by mutations in the ORC6 gene on chromosome 16q12. MGS type 4 is caused by mutations in the CDT1 gene on chromosome 16q24. MGS, type 5 is caused by mutations in the CDC6 gene on chromosome 17q21. MGS, type 6 is caused by mutations in the GMNN gene. MGS, type 7 is caused by mutations in the CDC45L gene and MGS, type 8 is caused by mutations in the MCM5 gene.

Last updated on 05-01-20

What is the life expectancy for Meier-Gorlin syndrome?

Most people with Meier-Gorlin syndrome have a normal life expectancy. However, there may be serious complications such as feeding and breathing problems in early infancy, and respiratory problems later in life. Case reports published in medical journals have described a few adults with this condition, including a 55-year-old woman. The lifespan of individuals with Meier-Gorlin syndrome likely depends on the severity of the condition.

Last updated on 05-01-20

Selected Full-Text Journal Articles

Meier-Gorlin Articles

de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM. Meier-Gorlin syndrome. Orphanet J Rare Dis. 2015 Sept 17; 10:114.

Last updated on 04-27-20

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Meier-Gorlin Syndrome 1 Online Mendelian Inheritance in Man (OMIM). Updated 7/10/2017; Reference Link Ear, patella, short stature syndrome National Organization of Rare Disorders (NORD). 2007; Reference Link De Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NVAM, Brunner HG, Jackson AP, Bongers EMHF. Meier-Gorlin Syndrome Orphanet J of Rare Dis. 2015; 10(114). Reference Link Meier-Gorlin Syndrome Genetics Home Reference (GHR). Feb 2014; Reference Link

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