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Trismus pseudocamptodactyly syndrome

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Medical condition
Trismus pseudocamptodactyly syndrome
Other namesDutch-Kentucky syndrome, Distal arthrogryposis type 7

Trismus pseudocamptodactyly syndrome is a rare genetic condition. A defining feature is the inability to open the mouth completely (trismus). Other signs and symptoms include abnormally short tendons and muscles, resulting in contractures, club foot, and other musculoskeletal abnormalities.

Genetics

It is an autosomal dominant condition caused by a mutation in MYH8. Approximately 60 cases have been reported worldwide.

Diagnosis

This section is empty. You can help by adding to it. (February 2018)

Treatment

Treatment is symptomatic in nature.

References

  1. "Trismus-pseudocamptodactyly syndrome - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov.
  2. "Trismus Pseudocamptodactyly Syndrome - NORD (National Organization for Rare Disorders)".
  3. ^ "OMIM Entry # 158300 - ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7". www.omim.org.

External links

ClassificationD
External resources
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