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Trismus-Pseudocamptodactyly Syndrome

  • Reference work entry
Atlas of Genetic Diagnosis and Counseling

  • 189 Accesses

The trismus-pseudocamptodactyly syndrome, a relatively rare hereditary disorder, is characterized by inability to open the mouth fully, pseudocamptodactyly, mild foot deformities, and mild short stature. This malformation syndrome was first reported by Hecht and Beals and Wilson et al. in 1969 (Hecht and Beals 1969; Wilson et al. 1969). The term Dutch–Kentucky syndrome was coined for trismus pseudocamptodactyly by Mabry et al. because the earliest affected member was a young Dutch girl who emigrated to the southern United States soon after the American Revolution.

Syonyms and Related Disorders

Dutch–Kentucky syndrome; Hecht–Beals syndrome

Genetics/Basic Defects

  1. 1.

    Inheritance

    1. a.

      Autosomal dominant

    2. b.

      High penetrance

    3. c.

      Variable expression

  2. 2.

    Caused by a single mutation, p.R674Q, in MYH8 (myosin heavy chain 8) gene (Toydemir et al. 2006a)

  3. 3.

    Pathogenesis

    1. a.

      Possible mechanisms of trismus

      1. i.

        The shortened lengths of certain mastication muscles presumed to be responsible for the clinical...

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References

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Editor information

Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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© 2012 Springer Science+Business Media, LLC

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(2012). Trismus-Pseudocamptodactyly Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_233

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