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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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Overview



What is Meier-Gorlin syndrome?

What are the signs and symptoms of Meier-Gorlin syndrome?

What causes Meier-Gorlin syndrome?


What is 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.[1]
Last updated: 5/14/2012

What are the signs and symptoms of Meier-Gorlin syndrome?

Most people with Meier-Gorlin syndrome have all three characteristic features of this condition, including small ears, absent or underdeveloped kneecaps (patellae), and short stature.[2] Additional features may include small head size, low-set ears, small mouth, full lips, cleft palate, small chin, and abnormalities of the genitalia or urinary tract. Affected individuals may experience feeding and breathing problems in early infancy.[2] The OMIM database provides a full list of the signs and symptoms of Meier-Gorlin syndrome.
Last updated: 5/14/2012

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.
  2. Bongers EM et al. Meier-Gorlin syndrome: report of eight additional cases and review. American Journal of Medical Genetics. 2001; 102:115-124. http://www.ncbi.nlm.nih.gov/pubmed/11477602. Accessed 5/14/2012.