Trichorhinophalangeal Syndrome Type III
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Trichorhinophalangeal Syndrome Type III is not the name you expected.
Trichorhinophalangeal syndrome type III (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by fine, thin light-colored hair; unusual facial features; abnormalities of the fingers and/or toes; and multiple abnormalities of the "growing ends" (epiphyses) of the bones (skeletal dysplasia), especially in the hands and feet. Characteristic facial features may include a pear-shaped or rounded (bulbous) nose; an abnormally long prominent groove (philtrum) in the upper lip; and/or abnormalities such as delayed eruption of teeth. In addition, affected individuals also exhibit severe shortening of the fingers and toes (brachydactyly) due to improper development of bones in the hands and feet (metacarpophalangeal shortening). Additional features often include short stature (dwarfism) and/or additional skeletal abnormalities. The range and severity of symptoms may vary from case to case. TRPS3 is thought to have autosomal dominant inheritance.
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Human Growth Foundation
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Little People of America, Inc.
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March of Dimes
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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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/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 5/25/2008
Copyright 2005 National Organization for Rare Disorders, Inc.
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