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Arthrogryposis, distal, type 1A

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Description

Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). Clubfoot, which is an inward- and upward-turning foot, is also commonly seen with distal arthrogryposis type 1. The specific hand and foot abnormalities vary among affected individuals. However, this condition typically does not cause any signs and symptoms affecting other parts of the body.

MedlinePlus Genetics

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Heterogeneous

VARIANTS

70

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Genes

External Links

  • OMIM

    108120

  • Orphanet
  • HPO
  • Medgen

    C0220662

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