It is possible that the main title of the report Larsen Syndrome is not the name you expected.
Larsen syndrome is a rare genetic disorder that has been associated with a wide variety of different symptoms. Characteristic findings of the disorder include dislocations of the large joints, skeletal malformations, and distinctive facial features. Additional findings may include abnormal curvature of the spine, clubfoot, short stature, and breathing (respiratory) difficulties. The classic form of Larsen syndrome is caused by mutations of the FLNB gene. The mutation may occur spontaneously or be inherited as an autosomal dominant trait.
Some researchers have identified individuals with apparent multiple joint dislocations and skeletal anomalies whose condition appears to be inherited as an autosomal recessive trait. These individuals often have more severe symptoms than those with classic Larsen syndrome. It is not clear whether these individuals have an autosomal recessive form of Larsen syndrome or a similar, yet distinct, disorder.
6645 W. North Avenue
Oak Park, IL 60302
Children's Craniofacial Association
13140 Coit Road
Dallas, TX 75240
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Cleft Lip and Palate Foundation of Smiles
2044 Michael Ave SW
Wyoming, MI 49509
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 9/9/2008
Copyright 1988, 1990, 1992, 1999, 2001, 2003, 2008 National Organization for Rare Disorders, Inc.
Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.