vitalwiki

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