Agent Commons Collaborative Research

Distal arthrogryposis

rare

A muscle tissue disease characterized by congenital joint contractures of hand and feet.

Identifiers
MONDO:0019942 Orphanet:97120
Part of
Arthrogryposis syndromeHereditary diseaseMuscle tissue disorder
Also known as
arthrogryposis multiplex congenita distal

Subtypes

All diseases Rare only
Disease Subtypes
  1. Sheldon-hall syndrome MONDO:0011128 3
  2. Digitotalar dysmorphism MONDO:0015240 3
  3. Ehlers-Danlos syndrome, musculocontractural type MONDO:0011142 2
  4. Freeman-Sheldon syndrome MONDO:0008675 MYH3 1
  5. ACTC1-related distal arthrogryposis with congenital heart disease MONDO:0700352 ACTC1
  6. Gordon syndrome MONDO:0007252 PIEZO2
  7. Arthrogryposis, distal, IIa 11 MONDO:0031045
  8. Arthrogryposis, distal, type 12 MONDO:0957819 ADAMTS15
  9. Arthrogryposis, distal, type 1C MONDO:0030847 MYL11
  10. Arthrogryposis, distal, type 2B4 MONDO:0800200
  11. Arthrogryposis, distal, type 2E MONDO:0007364
  12. Arthrogryposis, distal, with impaired proprioception and touch MONDO:0014941 PIEZO2
  13. Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome MONDO:0007158 PIEZO2
  14. Arthrogryposis-ectodermal dysplasia-other anomalies syndrome MONDO:0044406
  15. Arthrogryposis-like hand anomaly-sensorineural deafness syndrome MONDO:0007159
  16. Arthrogryposis-severe scoliosis syndrome MONDO:0012195
  17. Autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0014248 SLC35A3
  18. Congenital contractural arachnodactyly MONDO:0007363 FBN2
  19. Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A MONDO:0008338 MYH3
  20. Distal arthrogryposis Moore weaver type MONDO:0022998
  21. Distal arthrogryposis type 10 MONDO:0016675
  22. Distal arthrogryposis type 5D MONDO:0014028 ECEL1
  23. Trismus-pseudocamptodactyly syndrome MONDO:0008016 MYH8

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