Trismus-pseudocamptodactyly syndrome
ORPHA:3377· ICD-10 Q68.8
Definition
A rare, genetic, distal arthrogryposis characterized by pseudocamptodactyly, mild foot deformities, moderately short stature, and short muscles and tendons resulting in a limited range of motion of the hands, legs, and mouth, the later presenting with trismus.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal