English Version
OrphanAnesthesia
M. I. Poling, C. R. Dufresne

Distal arthrogryposis type 3

Distal arthrogryposis type 3

Schlüsselwörter Distal arthrogryposis type 3 – ICD 10: Q74.3 – Gordon syndrome; distal arthrogryposis multiplex congenita type IIA; camptodactyly, cleft palate, and clubfoot
Keywords Distal arthrogryposis type 3 – ICD 10: Q74.3 – Gordon syndrome; distal arthrogryposis multiplex congenita type IIA; camptodactyly, cleft palate, and clubfoot
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Summary

Distal arthrogryposis type 3 (DA3) is a congenital non-progressive myopathy that includes contractures of the hands and ankle-foot complex plus cleft palate, blepharoptosis, and abnormal spinal curvatures. DA3 lacks specific craniofacial findings required for either Freeman-Burian or Sheldon-Hall syndromes. Limb malformations accepted in the diagnostic criteria include two or more of the following: talipes equinovarus, metatarsus varus, vertical talus, talipes equinovalgus, calcaneovalgus, camptodactyly, ulnar deviation of wrists and fingers, overlapping fingers or toes, and hypoplastic or absent interphalangeal creases. Most instances of DA3 are sporadic, but autosomal dominant inheritance is established as well. There is no apparent gender, ethnic, or geographical preference, and environmental and parental factors are not implicated in pathogenesis.

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