Trismus Pseudocamptodactyly Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Trismus Pseudocamptodactyly Syndrome is not the name you expected.
Trismus-Pseudocamptodactyly Syndrome is a very rare inherited disorder characterized by the inability to completely open the mouth (trismus), causing difficulty with chewing (mastication) and/or the presence of abnormally short muscle-tendon units in the fingers, causing the fingers to curve or bend (camptodactyly) when the hand is bent back at the wrist (dorsiflexion). Because the fingers are not permanently bent or curved, this particular finding is termed "pseudocamptodactyly" (pseudo meaning false). In addition, the muscle-tendon units of the forearms and/or the legs may also be abnormally short, resulting in limited movements and various deformities of the feet. Individuals with this disorder are slightly shorter than would otherwise be expected (mild short stature). The severity of these physical findings varies from individual to individual. Trismus-Pseudocamptodactyly Syndrome is thought to be inherited as an autosomal dominant trait.
Genetic and Rare Diseases (GARD) Information Center
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- Website: http://rarediseases.info.nih.gov/GARD/
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
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".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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Last Updated: 4/18/2008
Copyright 2003 National Organization for Rare Disorders, Inc.
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