Trismus-pseudocamptodactyly syndrome

Is trismus-pseudocamptodactyly syndrome genetic?

Both sporadic and genetic cases of trismus-pseudocamptodactyly syndrome have been reported in the medical literature. "Sporadic" can refer to either a genetic disorder that occurs for the first time in a family due to a new mutation (gene change), or to the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family.

The genetic cases reported were inherited in an autosomal dominant fashion. In some families, trismus-pseudocamptodactyly syndrome can be caused by mutations in the MYH 8 gene.

GeneTests lists laboratories offering clinical genetic testing and research genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Research genetic tests may be used to find disease- causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases research test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about clinical and research testing for this condition.

Last updated on 05-01-20

What is trismus-pseudocamptodactyly syndrome?

Trismus-pseudocamptodactyly syndrome (TPS) is a disorder of muscle development and function. It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth. The most serious complications of the condition occur as a result of the limited mobility of the mouth (trismus). TPS is typically reported to be inherited in an autosomal dominant manner and is caused by mutations in the MYH8 gene. Treatment may involve surgical correction and physical therapy.

Last updated on 05-01-20

How can I learn about research involving the treatment of trismus in people with trismus-pseudocamptodactyly syndrome?

To learn about research opportunities, we suggest you review the information available on our get involved in research page.

Last updated on 05-01-20

How can I find other parents with children with trismus-pseudocamptodactyly syndrome?

We are not aware of a disease advocacy organization specifically for trismus- pseudocamptodactyly syndrome and their families. Still, you may find the following support organization to be helpful.

The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. You can order a printed report on trismus-pseudocamptodactyly syndrome through NORD’s Web site, or by calling or writing the NORD offices.

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
PO Box 1968
Danbury, CT 06813-1968
Toll-free: 1-800-999-6673 (voicemail only)
Telephone: 203-744-0100
TDD: 203-797-9590
Fax: 203-798-2291
E-mail: orphan@rarediseases.org
Web site: http://www.rarediseases.org/

Last updated on 05-01-20

What is the long-term outlook for trismus-pseudocamptodactyly syndrome

Overall individuals with trismus-pseudocamptodactyly syndrome have normal development and life expectancy does not appear to be reduced.

Last updated on 05-01-20

How might trismus-pseudocamptodactyly syndrome be treated?

There is no one treatment for trismus-pseudocamptodactyly (TPS), however, there are various strategies that can be used to manage symptoms. Physical and/or occupational therapy may be helpful for individuals experiencing difficulties with walking and hand movement. Surgery may be performed to correct certain musculoskeletal symptoms. There have been reported cases of improvement of mouth mobility following surgery and physical therapy.

Last updated on 05-01-20

Name: About Face International 51 Wolseley Street Toronto, ON M5T 1A4
Canada
Phone: +1-416-597-2229 Toll Free: 1-800-665-3223 Fax : +1-416-597-8494 Email: info@aboutface.ca Url: https://www.aboutface.ca/
Name: FACES: The National Craniofacial Association PO Box 11082
Chattanooga, TN, 37401, United States
Phone: 423-266-1632 Toll Free: 800-332-2373 Email: faces@faces-cranio.org Url: http://www.faces-cranio.org/
Name: Let's Face It University of Michigan School of Dentistry Dentistry Library 1011 North University
Ann Arbor, MI, 48109-1078, United States
Email: faceit@umich.edu Url: http://media.dent.umich.edu/faceit/info/ This website does not appear to be actively updated any longer. However the information and resources may be helpful.
Name: Ameriface PO Box 751112
Las Vegas, NV, 89136, United States
Phone: 702-769-9264 Toll Free: 888-486-1209 Email: info@ameriface.org Url: http://www.ameriface.org

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