Trismus pseudocamptodactyly syndrome

Trismus pseudocamptodactyly syndrome
Other namesDutch-Kentucky syndrome, Distal arthrogryposis type 7
A hand on a table with fifth finger bent.
Congenital camptodaktyly of the 5th (little) finger

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.[1][2]

Genetics

It is an autosomal dominant condition caused by a mutation in MYH8.[3] Approximately 60 cases have been reported worldwide.[3]

Diagnosis

Treatment

Treatment is symptomatic in nature.[3]

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. 1 2 3 "OMIM Entry # 158300 - ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7". www.omim.org.
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