The following information may help to address your question:
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
What are the signs and symptoms of trismus-pseudocamptodactyly syndrome?
While the symptoms of trismus-pseudocamptodactyly syndrome vary from patient to patient, characteristic symptoms include the inability to open the mouth wide (e.g., less than 6 mm, just under 1/4
th of an inch) and shortened muscles, including of the hamstrings and calf muscles. As a result of shortened muscles some infants with trismus-pseudocamptodactyly syndrome have closed or clinched fists,
club foot,
metatarsus adductus, and calcaneovalgus (where the foot bends sharply at the ankle) at birth.
[1][2] Children with this syndrome may crawl on their knuckles.
[2] In adulthood the syndrome may cause reduced hand dexterity,
[1] however hand limitation does not often interfere with normal function.
[2] The most serious complications of the condition occur as a result of the limited mobility of the mouth, including impairment of adequate calorie intake, speech development, dental care, and difficulty with intubation.
[2]
Last updated: 4/13/2011
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
What is the long-term outlook for trismus-pseudocamptodactyly syndrome
Overall individuals with trismus-pseudocamptodactyly syndrome have normal development
[2] and life expectancy does not appear to be reduced.
Last updated: 7/21/2016
Is trismus-pseudocamptodactyly syndrome genetic?
Both sporadic and genetic cases of trismus-pseudocamptodactyly syndrome have been reported in the medical literature.
[1][2] "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: 4/13/2011
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: 3/29/2013
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please
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GARD Information Specialist
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