Agent Commons Collaborative Research

Jeune syndrome

rare

Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.

Identifiers
MONDO:0018770 Orphanet:474
Part of
CiliopathyInherited renal tubular diseaseShort rib-polydactyly syndrome
Also known as
Asphyxiating Thoracic Dystrophy · asphyxiating thoracic dystrophy of the newborn · ATD · Chondroectodermal dysplasia-like syndrome · infantile thoracic dystrophy

Subtypes

All diseases Rare only
Disease Subtypes
  1. Ellis-van Creveld syndrome MONDO:0009162 1
  2. Beemer-Langer syndrome MONDO:0010024
  3. Jeune syndrome - GRK2-related MONDO:0100583 GRK2
  4. Asphyxiating thoracic dystrophy 1 MONDO:0008831
  5. Asphyxiating thoracic dystrophy 2 MONDO:0012644 IFT80
  6. Asphyxiating thoracic dystrophy 3 MONDO:0013127 DYNC2H1
  7. Asphyxiating thoracic dystrophy 4 MONDO:0013441 TTC21B
  8. Asphyxiating thoracic dystrophy 5 MONDO:0013717 WDR19
  9. Short-rib thoracic dysplasia 10 with or without polydactyly MONDO:0014284 IFT172
  10. Short-rib thoracic dysplasia 11 with or without polydactyly MONDO:0014287 DYNC2I2
  11. Short-rib thoracic dysplasia 13 with or without polydactyly MONDO:0014577 CEP120
  12. Short-rib thoracic dysplasia 14 with polydactyly MONDO:0014688 KIAA0586
  13. Short-rib thoracic dysplasia 15 with polydactyly MONDO:0014907 DYNC2LI1
  14. Short-rib thoracic dysplasia 16 with or without polydactyly MONDO:0014915 IFT52
  15. Short-rib thoracic dysplasia 17 with or without polydactyly MONDO:0054565 DYNLT2B
  16. Short-rib thoracic dysplasia 18 with polydactyly MONDO:0036483 IFT43
  17. Short-rib thoracic dysplasia 19 with or without polydactyly MONDO:0033485 IFT81
  18. Short-rib thoracic dysplasia 20 with polydactyly MONDO:0044328
  19. Short-rib thoracic dysplasia 21 without polydactyly MONDO:0030356 KIAA0753
  20. Short-rib thoracic dysplasia 22 without polydactyly MONDO:0979242 FGF4
  21. Short-rib thoracic dysplasia 6 with or without polydactyly MONDO:0009894 NEK1
  22. Short-rib thoracic dysplasia 7 with or without polydactyly MONDO:0013569 WDR35
  23. Short-rib thoracic dysplasia 8 with or without polydactyly MONDO:0014214 DYNC2I1
  24. Short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0009964 IFT140

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