Distal arthrogryposis

Orpha code: 97120OMIM code: 108145

Definicja

A group of rare arthrogryposis syndromes characterized by congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.

Disease data
Klasyfikacja

Clinical group

Kod ORPHA
97120
Kod OMIM
108145
Kod ICD10
Q68.8
Kod ICD11
-

No additional description.

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