Trismus pseudocamptodactyly syndrome

Trismus pseudocamptodactyly syndrome (also known as Hecht syndrome) is a rare genetic disorder characterized by the inability to open the mouth fully (trismus) and the bending of the fingers (pseudocamptodactyly). The syndrome is inherited in an autosomal dominant manner.

Symptoms

The primary symptoms of Trismus pseudocamptodactyly syndrome include:

• Limited mouth opening (trismus)
• Bent fingers (pseudocamptodactyly)
• Difficulty in swallowing
• Speech difficulties

Causes

Trismus pseudocamptodactyly syndrome is caused by mutations in the MYH8 gene. This gene provides instructions for making a protein that is involved in muscle contraction. Mutations in the MYH8 gene disrupt the normal function of this protein, leading to the symptoms of Trismus pseudocamptodactyly syndrome.

Diagnosis

Diagnosis of Trismus pseudocamptodactyly syndrome is based on the presence of characteristic symptoms. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Trismus pseudocamptodactyly syndrome. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, speech therapy, and surgery to improve mouth opening.

See also

• Genetic disorder
• Trismus
• Pseudocamptodactyly
• MYH8 gene

References

Trismus pseudocamptodactyly syndrome Resources
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