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Multiple epiphyseal dysplasia type 4

ORPHA:93307 · Disease · Disorder

HPO 表現型（共 58 項）

Very frequent (99-80%)(3)

  • ArthralgiaHP:0002829
  • Multiple epiphyseal dysplasiaHP:0002654
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(21)

  • Accelerated skeletal maturationHP:0005616
  • Acetabular dysplasiaHP:0008807
  • Arthralgia of the hipHP:0003365
  • Bilateral talipes equinovarusHP:0001776
  • BrachydactylyHP:0001156
  • Coxa varaHP:0002812
  • Disproportionate short statureHP:0003498
  • Double-layered patellaHP:0031174
  • Elbow flexion contractureHP:0002987
  • Flattened epiphysisHP:0003071
  • Flattened femoral epiphysisHP:0030289
  • Flexion contractureHP:0001371
  • Genu valgumHP:0002857
  • Joint stiffnessHP:0001387
  • Limitation of joint mobilityHP:0001376
  • MicrognathiaHP:0000347
  • Moderately short statureHP:0008848
  • Premature osteoarthritisHP:0003088
  • Talipes equinovarusHP:0001762
  • Upper limb undergrowthHP:0009824
  • Waddling gaitHP:0002515

Occasional (29-5%)(34)

  • Abnormal earlobe morphologyHP:0000363
  • Abnormal forearm bone morphologyHP:0040072
  • Abnormal hand morphologyHP:0005922
  • Abnormal pinna morphologyHP:0000377
  • Abnormal ulnar epiphysis morphologyHP:0004037
  • AcromicriaHP:0031878
  • AcroparesthesiaHP:0031006
  • Broad femoral neckHP:0006429
  • Broad footHP:0001769
  • Cervical kyphosisHP:0002947
  • Cleft palateHP:0000175
  • Contracture of the proximal interphalangeal joint of the 3rd fingerHP:0009471
  • Delayed femoral head ossificationHP:0008829
  • Flattened radial epiphysesHP:0004002
  • High palateHP:0000218
  • Hip dislocationHP:0002827
  • Hip dysplasiaHP:0001385
  • Hypoplastic cervical vertebraeHP:0008434
  • Low-set earsHP:0000369
  • Metaphyseal wideningHP:0003016
  • Metatarsal synostosisHP:0001440
  • Radial bowingHP:0002986
  • RhizomeliaHP:0008905
  • ScoliosisHP:0002650
  • Short femoral neckHP:0100864
  • Short fingerHP:0009381
  • Short metacarpalHP:0010049
  • Short metatarsalHP:0010743
  • Short thumbHP:0009778
  • Short toeHP:0001831
  • SkewfootHP:0032649
  • Stiff ankleHP:0025264
  • Ulnar bowingHP:0003031
  • Ulnar deviation of the handHP:0009487