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Autosomal recessive otospondylomegaepiphyseal dysplasia

ORPHA:1427 · Disease · Disorder

HPO 表現型（共 43 項）

Very frequent (99-80%)(8)

  • Abnormal joint morphologyHP:0001367
  • Abnormal pelvis bone morphologyHP:0040163
  • Abnormal vertebral morphologyHP:0003468
  • Anteverted naresHP:0000463
  • Depressed nasal bridgeHP:0005280
  • Disproportionate short statureHP:0003498
  • Midface retrusionHP:0011800
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(10)

  • Abnormal iliac wing morphologyHP:0011867
  • Abnormal long bone morphologyHP:0011314
  • Bifid uvulaHP:0000193
  • BrachydactylyHP:0001156
  • Cleft palateHP:0000175
  • Dumbbell-shaped femurHP:0006375
  • Epiphyseal dysplasiaHP:0002656
  • Flat faceHP:0012368
  • Limb undergrowthHP:0009826
  • MicrognathiaHP:0000347

Occasional (29-5%)(18)

  • Abnormally ossified vertebraeHP:0100569
  • Coronal cleft vertebraeHP:0003417
  • Enlarged jointsHP:0003037
  • Fibular bowingHP:0010502
  • Flared femoral metaphysisHP:0002834
  • GlossoptosisHP:0000162
  • Limitation of joint mobilityHP:0001376
  • Lumbar hyperlordosisHP:0002938
  • OsteoarthritisHP:0002758
  • PlatyspondylyHP:0000926
  • PolyhydramniosHP:0001561
  • Posteriorly rotated earsHP:0000358
  • ProptosisHP:0000520
  • Sandal gapHP:0001852
  • Short metacarpalHP:0010049
  • Short neckHP:0000470
  • Short phalanx of fingerHP:0009803
  • Tibial bowingHP:0002982

Very rare (<4-1%)(3)

  • HypermetropiaHP:0000540
  • Mild myopiaHP:0025573
  • StrabismusHP:0000486

Excluded (0%)(4)

  • CataractHP:0000518
  • Degenerative vitreoretinopathyHP:0007964
  • High myopiaHP:0011003
  • Retinal detachmentHP:0000541