Trismus-pseudocamptodactyly syndrome

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Disease Overview

Trismus-pseudocamptodactyly syndrome (TPS) is a disorder of muscle development and function.[906] It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth.[906] The most serious complications of the condition occur as a result of the limited mobility of the mouth (trismus).[907] TPS is typically reported to be inherited in an autosomal dominant manner and is caused by mutations in the MYH8 gene.[906][11901] Treatment may involve surgical correction and physical therapy.[906][907] 


Synonyms

  • Hecht syndrome
  • Dutch-Kentucky syndrome
  • Distal arthrogryposis type 7
  • Arthrogryposis distal type 7

For more information, visit GARD.

National Organization for Rare Disorders