Distal arthrogryposis type 1

Orpha code: 1146OMIM code: 619110

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
DA1
Artrogrypoza dystalna typu 1
Digitotalar dysmorphism
Kod ORPHA
1146
Kod OMIM
619110
Kod ICD10
Q68.8
Kod ICD11
LD26.4Y

No additional description.

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