Trismus-pseudocamptodactyly syndrome

Question Question

My child has trismus-pseudocamptodactyly syndrome. We are very concerned about his trismus. We are interested in receiving any information regarding effective treatment for trismus.

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The following information may help to address your question:

What is trismus-pseudocamptodactyly syndrome?
How might trismus-pseudocamptodactyly syndrome be treated?
How can I learn about research involving the treatment of trismus in people with trismus-pseudocamptodactyly syndrome?

What is trismus-pseudocamptodactyly syndrome?

Trismus-pseudocamptodactyly syndrome (TPS) is a disorder of muscle development and function.^[1] It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth.^[1] The most serious complications of the condition occur as a result of the limited mobility of the mouth (trismus).^[2] TPS is typically reported to be inherited in an autosomal dominant manner and is caused by mutations in the MYH8 gene.^[1]^[3] Treatment may involve surgical correction and physical therapy.^[1]^[2]

Last updated: 7/21/2016

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.^[4] There have been reported cases of improvement of mouth mobility following surgery and physical therapy.^[1]^[2]^[5]^[6]

Last updated: 7/21/2016

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: 7/21/2016

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

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GARD Information Specialist

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References References

Carlos R, Contreras E, Cabrera J. Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review. Oral Dis. 2005 May; http://www.ncbi.nlm.nih.gov/pubmed/15888111.
Lefaivre JF, Aitchison MJ. Surgical correction of trismus in a child with Hecht syndrome. Ann Plast Surg. 2003 Mar; http://www.ncbi.nlm.nih.gov/pubmed/12800911.
Victor A. McKusick. ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7. In: Marla J. F. O'Neill. OMIM. 2/26/2013; http://www.omim.org/entry/158300.
Trismus Pseudocamptodactyly Syndrome. NORD. 2003; http://rarediseases.org/rare-diseases/trismus-pseudocamptodactyly-syndrome/. Accessed 7/21/2016.
Gasparini G, Boniello R, Moro A, Zampino G, Pelo S. Trismus-pseudocamptodactyly syndrome: case report ten years after. Eur J Paediatr Dent. 2008 Dec; http://www.ncbi.nlm.nih.gov/pubmed/19072009.
Balkin, Daniel M. MD, PhD; Chen, Isaac DDS; Oberoi, Snehlata DDS, MS; Pomerantz, Jason H. MD. Bilateral Coronoidectomy by Craniofacial Approach for Hecht Syndrome-Related Trismus. Journal of Craniofacial Surgery. September 2015; 26(6):1954-1956. http://www.ncbi.nlm.nih.gov/pubmed/26335328.

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