Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Meier-Gorlin syndrome


Other Names for this Disease

  • 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.

Symptoms

Newline Maker

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

References
  1. 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.


Other Names for this Disease
  • 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.