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 names | Dutch-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: Yes.
gollark: Maybe I should make a mildly easier "Jsolangs", which would use JSON as an encoding and skip all the "parsing" nonsense.
gollark: Oh, no, it doesn't, it's fine.
gollark: Although it has a significant problem.
gollark: Hmm, we should implement RocketRace's Esolangs.
References
- "Trismus-pseudocamptodactyly syndrome - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov.
- "Trismus Pseudocamptodactyly Syndrome - NORD (National Organization for Rare Disorders)".
- "OMIM Entry # 158300 - ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7". www.omim.org.
External links
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.