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Spondyloepiphyseal Dysplasia Tarda
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Copyright 1986, 1987, 1990, 1996, 2004
NORD is grateful to George E. Tiller, MD, PhD, Associate Professor of Pediatrics, Division of Medical Genetics, Department of Pediatrics, Vanderbilt Children's Hospital for assistance in the preparation of this report.
Synonyms of Spondyloepiphyseal Dysplasia Tarda
- SED Tarda
- X-linked Spondyloepiphyseal Dysplasia
Disorder Subdivisions
General Discussion
Spondyloepiphyseal dysplasia tarda (SEDT; SEDL) is a rare, hereditary, skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism), moderate to severe spinal deformities, barrel-chest, disproportionately short trunk, and premature osteoarthritis.
An extremely rare form of SEDT, the Toledo Type, differs from typical SEDT by its autosomal recessive mode of genetic transmission and by the presence of a metabolic abnormality in the urine.
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Organizations related to Spondyloepiphyseal Dysplasia Tarda
- European Skeletal Dysplasia Network (ESDN)
Wellcome Trust Centre for Cell-Matrix Research
Faculty of Life Sciences
University of Manchester
Michael Smith Building, Oxford Road
Manchester None M13 9PT
Phone #: 44 -161- 275 5642
800 #: N/A
e-mail: info@esdn.org
Home page: http://www.esdn.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: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Human Growth Foundation
997 Glen Cove Avenue
Glen Head NY 11545
Phone #: 516-671-4041
800 #: 800-451-6434
e-mail: hgf1@hgfound.org
Home page: http://www.hgfound.org/
- Kniest SED Group
None
None None None
Phone #: N/A
800 #: N/A
e-mail: support@ksginfo.org
Home page: http://www.ksginfo.org
- Little People of America, Inc.
250 El Camino Real
Suite 201
Tustin CA 92780
Phone #: 714-368-3689
800 #: 888-572-2001
e-mail: info@lpaonline.org
Home page: http://www.lpaonline.org
- Little People's Research Fund, Inc.
616 Old Edmondson Avenue
2nd Floor
Catonsville MD 21228-3305
Phone #: 410-747-1100
800 #: 800-232-5773
e-mail: lprf@lprf.org
Home page: http://www.lprf.org
- MAGIC Foundation
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
- MUMS (Mothers United for Moral Support, Inc) 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/
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