Синдром тризму-псевдокампактодактилії
ORPHA:3377· ICD-10 Q68.8· Trismus-pseudocamptodactyly syndrome
Визначення(English summary)
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.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant
- Вік початку
- Infancy, Neonatal