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GTR Home > Conditions/Phenotypes > Arthrogryposis, distal, type 12

Arthrogryposis, distal, type 12

Summary

Distal arthrogryposis type 12 (DA12) is characterized by congenital contractures, primarily affecting the small joints of the fingers and toes. Additional features include contractures of the knees and Achilles tendons, spinal stiffness, scoliosis, and orthodontic abnormalities. Radiographic investigations excluded bony abnormalities of the affected joints (Boschann et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DA12, ADAMTS15
    Summary: ADAM metallopeptidase with thrombospondin type 1 motif 15

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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