Trismus-pseudocamptodactyly syndrome

Definition:

Trismus-pseudocamptodactyly syndrome is a rare autosomal dominant distal arthrogryposis characterized by the inability to open the mouth (trismus) causing difficulty with mastication, and an unusual camptodactyly of the fingers that is apparent only while attempting dorsiflexion of the wrist (pseudocamptodactyly).

References:

[1]. R Carlos, et al. Trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review. Oral Dis. 2005 May;11(3):186-9. [Content Brief]

[2]. Reha M Toydemir, et al. Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A. 2006 Nov 15;140(22):2387-93. [Content Brief]

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