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Copyright 1988, 1989, 1992, 1997, 1998, 1999, 2006, 2007
Synonyms of Freeman Sheldon Syndrome
- Craniocarpotarsal dystrophy (dysplasia)
- DA2A
- Distal arthrogryposis type 2A
- FSS
- Whistling face syndrome
- Whistling face-windmill vane hand syndrome
Disorder Subdivisions
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).
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Organizations related to Freeman Sheldon Syndrome
- AmeriFace
PO Box 751112
Las Vegas NV 89136
Phone #: 702-769-9264
800 #: 888-486-1209
e-mail: info@ameriface.org
Home page: http://www.ameriface.org
- Association for Spina Bifida and Hydrocephalus
42 Park Road
Peterborough None PE1 2UQ
Phone #: 084-5 4-50 7755
800 #: --
e-mail: helpline@asbah.org
Home page: http://www.asbah.org
- Craniofacial Foundation of America
975 East Third Street
Chattanooga TN 37403
Phone #: 423-778-9176
800 #: 800-418-3223
e-mail: terry.smyth@erlanger.org
Home page: http://www.craniofacialfoundation.org
- 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
- Freeman-Sheldon Parent Support Group
509 Northmont Way
Salt Lake City UT 84103
Phone #: 801-364-7060
800 #: --
e-mail: info@fspsg.org
Home page: http://www.fspsg.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- Malignant Hyperthermia Association of the United States (MHAUS)
11 East State Street
PO Box 1069
Sherburne NY 13460-1069
Phone #: 607-674-7901
800 #: --
e-mail: info@mhaus.org
Home page: http://www.mhaus.org
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
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
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