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Diseases

Genetic and Rare Diseases Information Center (GARD)

Larsen syndrome


Other Names for this Disease
  • Autosomal dominant Larsen syndrome
  • LRS
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

Larsen syndrome is a condition that causes abnormal development of the bones. Signs and symptoms may include clubfoot and numerous joint dislocations at birth (affecting the hips, knees and elbows); flexible joints; and a distinctive appearance of the face, hands and feet. Larsen syndrome is inherited in an autosomal dominant manner and is caused by mutations in the FLNB gene.[1][2] Management may include surgeries (especially for hip dislocation), and physiotherapy.[1]
Last updated: 3/31/2014

References

  1. Stephen Robertson. Autosomal dominant Larsen syndrome. Orphanet. July, 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=503. Accessed 3/31/2014.
  2. Larsen syndrome. Genetics Home Reference. September, 2011; http://ghr.nlm.nih.gov/condition/larsen-syndrome. Accessed 3/31/2014.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Larsen 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 Larsen syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Autosomal dominant Larsen syndrome
  • LRS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.