| Symbol
| TPCS
|
| Location
| 17p13.1
|
| Name
|
trismus-pseudocamptodactyly syndrome |
| Other name(s)
|
arthrogryposis, distal, type 7
. Hecht syndrome
. Dutch-Kentucky syndrome |
| Corresponding gene
|
MYH8
|
| Main clinical features
|
inability to open the mouth completely with resulting problems in mastication, short finger-flexor tendons such that dorsiflexion of the wrist resulted in camptodactyly, and short leg muscles resulting in foot deformity |
| Genetic determination
| autosomal dominant |
| Function/system disorder
| neuromuscular |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| missense
|
|
| R674Q, mostly frequent, also in Carney complex
| |
| Genotype/Phenotype correlations
|
mutation R674Q associated also with cranial dysmorphism, and joint involvement in addition to trismus and pseudocamptodactyly |