Trismus pseudocamptodactyly syndrome
| Trismus pseudocamptodactyly syndrome | |
|---|---|
| Other names | Dutch-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.[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
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Treatment
Treatment is symptomatic in nature.[3]
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)".
- ^ a b c "OMIM Entry # 158300 - ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7". www.omim.org.