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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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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.[1] 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.[1] The OMIM database provides a full list of the signs and symptoms of Meier-Gorlin syndrome.
Last updated: 5/14/2012

  1. Bongers EM et al. Meier-Gorlin syndrome: report of eight additional cases and review. American Journal of Medical Genetics. 2001; 102:115-124. Accessed 5/14/2012.