Distal arthrogryposis

Orpha code: 97120OMIM code: 108145

Definition

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
Classification

Clinical group

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

No additional description.

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