Trismus pseudocamptodactyly syndrome

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]

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

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]

gollark: I just managed to totally kill my base's power grid by using robots!
gollark: Er, utility science, I forgotr.
gollark: I'm planning to get hightech science and some bots, then burn the place to the ground and start over with a Modular Train Future™.
gollark: The spaghetti grows.
gollark: Wiring error. I wired it to another inserter instead of the chest.

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.
Classification
External resources
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.