National Organization for Rare Disorders, Inc.
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 and limb 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.
FLNB-related disorders are a group of disorders (including autosomal dominant Larsen syndrome) that occur due to mutations of the Filamin B gene (FLNB) gene. This group includes atelosteogenesis types I and III, boomerang dysplasia and spondylocarpotarsal syndrome. These disorders are characterized by skeletal abnormalities affecting the bones of the hands and feet, the bones of the spine (vertebrae), joint dislocations, and distinctive facial features. The specific symptoms and severity of these disorders may vary greatly even among members of the same family.
Researchers have identified individuals with multiple joint dislocations and skeletal anomalies whose condition appears to be inherited as an autosomal recessive trait. These individuals often have different radiological findings than those with classic Larsen syndrome. Mutations in the carbohydrate sulfotransferase 3 (CHST3) gene have been identified in patients with so-called autosomal recessive Larsen syndrome that also includes humero-spinal dysostosis and spondyloepiphyseal dysplasia Omani type. A variant of Larsen syndrome was reported in patients from Reunion Island in the southern Indian Ocean and characterized by dwarfism, hyperlaxity, multiple dislocations and distinctive facial features. It is inherited in an autosomal recessive fashion and results from a founder homozygous missense mutation in B4GALT7. Since these disorders are known to be caused by different genes than classic, autosomal dominant Larsen syndrome, the term autosomal recessive Larsen syndrome should probably be avoided to prevent confusion with clinical disorders resulting from mutations in FLNB.
Children's Craniofacial Association
- 13140 Coit Road
- Suite 517
- Dallas, TX 75240
- Tel: (214)570-9099
- Fax: (214)570-8811
- Tel: (800)535-3643
- Email: contactCCA@ccakids.com
- Website: http://www.ccakids.com
Cleft Lip and Palate Foundation of Smiles
- 2044 Michael Ave SW
- Wyoming, MI 49509
- Tel: (616)329-1335
- Email: Rachelmancuso09@comcast.net
- Website: http://www.cleftsmile.org
FACES: The National Craniofacial Association
- PO Box 11082
- Chattanooga, TN 37401
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- Fax: (423)267-3124
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Genetic and Rare Diseases (GARD) Information Center
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March of Dimes
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
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- Tel: (877)226-4267
- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.
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.
Last Updated: 11/11/2015
Copyright 2015 National Organization for Rare Disorders, Inc.
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