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Dyggve-Melchior-Clausen disease

ORPHA:239 · Disease · Disorder

HPO 表現型（共 59 項）

Very frequent (99-80%)(4)

  • Disproportionate short-trunk short statureHP:0003521
  • Failure to thriveHP:0001508
  • Intellectual disabilityHP:0001249
  • Spondyloepimetaphyseal dysplasiaHP:0002651

Frequent (79-30%)(30)

  • Abnormal femoral head morphologyHP:0003368
  • Abnormal hip bone morphologyHP:0003272
  • Abnormal pelvis bone morphologyHP:0040163
  • Abnormality of the vertebral columnHP:0000925
  • Abnormality of the vertebral endplatesHP:0005106
  • Beaking of vertebral bodiesHP:0004568
  • Broad femoral neckHP:0006429
  • Broad ribsHP:0000885
  • Coarse facial featuresHP:0000280
  • Epiphyseal dysplasiaHP:0002656
  • Gait disturbanceHP:0001288
  • Horizontal inferior border of scapulaHP:0031233
  • Hypoplasia of the capital femoral epiphysisHP:0003090
  • Hypoplastic acetabulaeHP:0003274
  • Hypoplastic iliaHP:0000946
  • Iliac crest serrationHP:0008786
  • Limb muscle weaknessHP:0003690
  • Metaphyseal dysplasiaHP:0100255
  • MicrocephalyHP:0000252
  • Motor delayHP:0001270
  • Pectus carinatumHP:0000768
  • PlatyspondylyHP:0000926
  • RhizomeliaHP:0008905
  • Severe intellectual disabilityHP:0010864
  • Severe short statureHP:0003510
  • Short long boneHP:0003026
  • Short neckHP:0000470
  • Short thoraxHP:0010306
  • Skeletal dysplasiaHP:0002652
  • Wide pubic symphysisHP:0003183

Occasional (29-5%)(22)

  • Abnormality of the ankleHP:0003028
  • Atlantoaxial instabilityHP:0003467
  • Broad carpal bonesHP:0004242
  • Coxa varaHP:0002812
  • Delayed speech and language developmentHP:0000750
  • Difficulty standingHP:0003698
  • Diminished ability to concentrateHP:0031987
  • Frequent fallsHP:0002359
  • Genu valgumHP:0002857
  • Glenoid fossa hypoplasiaHP:0006633
  • HyperactivityHP:0000752
  • HyperreflexiaHP:0001347
  • Hypoplasia of the odontoid processHP:0003311
  • Inability to walkHP:0002540
  • Limited elbow extensionHP:0001377
  • Limited knee extensionHP:0003066
  • Mild intellectual disabilityHP:0001256
  • Poor speechHP:0002465
  • Protuberant abdomenHP:0001538
  • Recurrent upper respiratory tract infectionsHP:0002788
  • Respiratory insufficiency due to muscle weaknessHP:0002747
  • Spastic tetraparesisHP:0001285

Excluded (0%)(3)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • Corneal opacityHP:0007957
  • Hearing impairmentHP:0000365