Distal arthrogrypose type 7
Engelsk navn: Trismus-pseudocamptodactyly syndrome
Engelske synonym: Distal arthrogryposis type 7,Dutch-Kentucky syndrome,Hecht syndrome,Hecht-Beals syndrome
Definisjon
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.
Fra Orphanet
ORPHA: 3377
Klassifiseringsnivå: Disorder
ICD-10: Q68.8