Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Larsen Syndrome


Synonyms of Larsen Syndrome
  • No synonyms found

Disorder Subdivisions

  • No synonyms found


General Discussion
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.

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Organizations related to Larsen Syndrome
  • Children's Craniofacial Association
    13140 Coit Road
    Dallas TX 75240
    Phone #: 214-570-9099
    800 #: 800-535-3643
    e-mail: csmith@ccakids.com
    Home page: http://www.ccakids.com
  • Congenital Heart Anomalies, Support, Education, & Resources
    2112 North Wilkins Road
    Swanton OH 43558
    Phone #: 419-825-5575
    800 #: --
    e-mail: chaser@compuserve.com
    Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
  • FACES: The National Craniofacial Association
    P.O. Box 11082
    Chattanooga TN 37401
    Phone #: 423-266-1632
    800 #: 800-332-2373
    e-mail: faces@faces-cranio.org
    Home page: http://www.faces-cranio.org
  • Little People of America, Inc.
    250 El Camino Real
    Tustin CA 92780
    Phone #: 714-368-3689
    800 #: 888-572-2001
    e-mail: info@lpaonline.org
    Home page: http://www.lpaonline.org
  • MAGIC Foundation for Children's Growth
    6645 W. North Avenue
    Oak Park IL 60302
    Phone #: 708-383-0808
    800 #: 800-362-4423
    e-mail: mary@magicfoundation.org
    Home page: http://www.magicfoundation.org
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    800 #: 888-663-4637
    e-mail: Askus@marchofdimes.com
    Home page: http://www.marchofdimes.com
  • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
    1 AMS Circle
    Bethesda MD 20892-3675
    Phone #: 301-495-4484
    800 #: 877-226-4267
    e-mail: NIAMSinfo@mail.nih.gov
    Home page: http://www.niams.nih.gov/Health_Info
  • The Arc (a national organization on mental retardation)
    1010 Wayne Ave
    Silver Spring MD 20910
    Phone #: 301-565-3842
    800 #: 800-433-5255
    e-mail: info@thearc.org
    Home page: http://www.thearc.org/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html