Trichorhinophalangeal Syndrome Type II
National Organization for Rare Disorders, Inc.
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Trichorhinophalangeal syndrome type II (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder. TRPS2 is characterized by fine, thin hair; unusual facial features; progressive growth retardation resulting in short stature (dwarfism); abnormally short fingers and toes (brachydactyly); "cone-shaped" formation of the "growing ends" of certain bones (epiphyseal coning); and/or development of multiple bony growths (exostoses) projecting outward from the surfaces of various bones of the body. In addition, affected individuals may exhibit unusually flexible (hyperextensible) joints, diminished muscle tone (hypotonia), excess folds of skin (redundant skin), and/or discolored elevated spots on the skin (maculopapular nevi). Affected individuals may also exhibit mild to severe mental retardation, hearing loss (sensorineural deafness), and/or delayed speech development. The range and severity of symptoms varies greatly from case to case. TRPS2 is due to the absence of genetic material (chromosomal deletions) on chromosome 8. The size of the deletion varies from case to case.
Genetic and Rare Diseases (GARD) Information Center
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Little People of America, Inc.
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March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Website: http://www.marchofdimes.com
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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- Bethesda, MD 20892-3675
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- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
NIH/National Institute on Deafness and Other Communication Disorders
- 31 Center Drive, MSC 2320
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Trichorhinophalangeal Syndrome Association
- 6585 Dawn Way East
- Inver Grove Heights, MN 55076
- Tel: (651)450-0788
- Email: TRPSA@comcast.net
- Website: http://trpsa.org/trpsa_wp/
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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 firstname.lastname@example.org
Last Updated: 1/24/1970
Copyright 2005 National Organization for Rare Disorders, Inc.
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