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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Meier-Gorlin syndrome


Other Names for this Disease
  • Ear, patella, short stature syndrome
  • Microtia, absent patellae, micrognathia syndrome
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Cause


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What causes Meier-Gorlin syndrome?

Meier-Gorlin syndrome type 1 is caused by homozygous or compound heterozygous mutations in the ORC1 gene on chromosome 1p32. Meier-Gorlin syndrome type 2 is caused by homozygous or compound heterozygous mutations in the ORC4 gene on chromosome 2q22-q23. Meier-Gorlin syndrome type 3 is caused by compound heterozygous mutation in the ORC6 gene on chromosome 16q12. Meier-Gorlin syndrome type 4 is caused by homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24. Meier-Gorlin syndrome-5 is caused by homozygous mutation in the CDC6 gene on chromosome 17q21.[1]



Last updated: 5/14/2012

References
  1. Meier-Gorline Syndrome 1. Online Mendelian Inheritance in Man (OMIM). April 26, 2012; http://omim.org/entry/224690. Accessed 5/14/2012.