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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
  • Ear-patella-short stature syndrome
  • Microtia, absent patellae, micrognathia syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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

References

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

  • Genetics Home Reference (GHR) contains information on Meier-Gorlin syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Meier-Gorlin syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Ear, patella, short stature syndrome
  • Ear-patella-short stature syndrome
  • Microtia, absent patellae, micrognathia syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.