Distal arthrogrypose type 1
Engelsk navn: Distal arthrogryposis type 1
Engelske synonym: DA1,Digitotalar dysmorphism
Definisjon
A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.
Fra Orphanet
ORPHA: 1146
Klassifiseringsnivå: Disorder
ICD-10: Q68.8