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Brachydactylous dwarfism, Mseleni type

ORPHA:2619 · Disease · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(11)

  • Abnormal femoral head morphologyHP:0003368
  • Abnormality of the ankleHP:0003028
  • ArthralgiaHP:0002829
  • BrachytelomesophalangyHP:0005872
  • Hip osteoarthritisHP:0008843
  • Knee osteoarthritisHP:0005086
  • Multiple epiphyseal dysplasiaHP:0002654
  • OsteopeniaHP:0000938
  • PlatyspondylyHP:0000926
  • Severe short statureHP:0003510
  • Short toeHP:0001831

Frequent (79-30%)(5)

  • Abnormality of the wristHP:0003019
  • Joint subluxationHP:0032153
  • Limitation of joint mobilityHP:0001376
  • Osteoarthritis of the elbowHP:0003940
  • Stiff shouldersHP:0009742

Occasional (29-5%)(1)

  • Protrusio acetabuliHP:0003179

Excluded (0%)(2)

  • AutoimmunityHP:0002960
  • Increased inflammatory responseHP:0012649