Skip to content

    Children's Health

    Font Size
    A
    A
    A

    Freeman Sheldon Syndrome

    Important
    It is possible that the main title of the report Freeman Sheldon Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • Craniocarpotarsal dystrophy (dysplasia)
    • FSS
    • Whistling face syndrome
    • Whistling face-windmill vane hand syndrome
    • Distal arthrogryposis type 2A
    • DA2A

    Disorder Subdivisions

    • None

    General Discussion

    Freeman-Sheldon syndrome is a rare inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Craniofacial abnormalities may consist of characteristic facial features that cause the individual to appear to be whistling. These features include an extremely small puckered mouth (microstomia); a "full" forehead appearance, unusually prominent cheeks; and thin, pursed lips. Affected infants may also have an unusually flat middle portion of the face, a high roof of the mouth (palate), an unusually small jaw (micrognathia), an abnormally small tongue (microglossia), and/or a raised, scar-like mark in the shape of an "H" or a "V" extending from the lower lip to the chin. Affected infants often have abnormalities affecting the eyes including widely-spaced deep-set eyes, crossed eyes (strabismus), and/or downslanting eyelid folds (palpebral fissures). Malformations of the hands and feet are also characteristic of Freeman-Sheldon syndrome. Children with Freeman-Sheldon syndrome may also exhibit speech impairment; swallowing and eating difficulties; vomiting; failure to grow and gain weight at the expected rate (failure to thrive); and/or respiratory problems that may result in life-threatening complications. Freeman-Sheldon syndrome can be inherited as an autosomal dominant genetic trait. However, most cases occur randomly with no apparent cause (sporadically).

    Resources

    Freeman-Sheldon Research Group, Inc.
    1701 Hamill Avenue
    Clarksburg, WV 26301
    Tel: (304)624-1436
    Email: phaberbosch@aol.com
    Internet: http://clinmedsurgcranio.blogspot.com/ & http://www.fspsg.org

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

    FACES: The National Craniofacial Association
    PO Box 11082
    Chattanooga, TN 37401
    Tel: (423)266-1632
    Fax: (423)267-3124
    Tel: (800)332-2373
    Email: faces@faces-cranio.org
    Internet: http://www.faces-cranio.org

    Malignant Hyperthermia Association of the United States
    1 North Main St
    PO Box 1069
    Sherburne, NY 13460
    USA
    Tel: (607)674-7901
    Fax: (607)674-7910
    Email: info@mhaus.org
    Internet: http://www.mhaus.org

    AmeriFace
    P.O. Box 751112
    Limekiln, PA 19535
    USA
    Tel: (702)769-9264
    Fax: (702)341-5351
    Tel: (888)486-1209
    Email: info@ameriface.org
    Internet: http://www.ameriface.org

    NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
    Information Clearinghouse
    One AMS Circle
    Bethesda, MD 20892-3675
    USA
    Tel: (301)495-4484
    Fax: (301)718-6366
    Tel: (877)226-4267
    TDD: (301)565-2966
    Email: NIAMSinfo@mail.nih.gov
    Internet: http://www.niams.nih.gov/

    Craniofacial Foundation of America
    975 East Third Street
    Chattanooga, TN 37403
    Tel: (423)778-9176
    Fax: (423)778-8172
    Tel: (800)418-3223
    Email: terry.smyth@erlanger.org
    Internet: http://www.craniofacialfoundation.org

    Shine
    42 Park Road
    Peterborough, PE1 2UQ
    United Kingdom
    Tel: 01733555988
    Fax: 08454507755
    Email: info@shinecharity.org.uk
    Internet: http://www.shinecharity.org.uk/

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    For a Complete Report:

    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 orphan@rarediseases.org

    Last Updated: 9/23/2007
    Copyright 1988, 1989, 1992, 1997, 1998, 1999, 2006, 2007 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

    Today on WebMD

    child with red rash on cheeks
    What’s that rash?
    plate of fruit and veggies
    How healthy is your child’s diet?
     
    smiling baby
    Treating diarrhea, fever and more.
    Middle school band practice
    Understanding your child’s changing body.
     

    worried kid
    fitArticle
    jennifer aniston
    Slideshow
     
    Measles virus
    Article
    sick child
    Slideshow
     

    babyapp
    New
    Child with adhd
    Slideshow
     
    rl with friends
    fitSlideshow
    Child Coughing or Sneezing into Elbow
    Article