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Kniest dysplasia
ORPHA:485 · Disease · Disorder
HPO 表現型（共 51 項）
Obligate (100%)(1)
- Abnormal cartilage collagenHP:0008271
Very frequent (99-80%)(15)
- Abnormal bone structureHP:0003330
- Abnormal joint morphologyHP:0001367
- Bell-shaped thoraxHP:0001591
- Degenerative vitreoretinopathyHP:0007964
- Delayed epiphyseal ossificationHP:0002663
- Depressed nasal bridgeHP:0005280
- Disproportionate short statureHP:0003498
- Enlarged jointsHP:0003037
- Flexion contracture of fingerHP:0012785
- High myopiaHP:0011003
- Joint stiffnessHP:0001387
- Keratan sulfate excretion in urineHP:0012069
- ProptosisHP:0000520
- Round faceHP:0000311
- VitreoretinopathyHP:0007773
Frequent (79-30%)(19)
- Abnormality of the epiphysis of the femoral headHP:0010574
- Aplasia/hypoplasia of the extremitiesHP:0009815
- Aplasia/Hypoplasia of the lensHP:0008063
- ArthropathyHP:0003040
- Cervical spine instabilityHP:0010646
- Cleft palateHP:0000175
- Disproportionate short-trunk short statureHP:0003521
- Dumbbell-shaped long boneHP:0000947
- Enlarged epiphysesHP:0010580
- Enlarged metaphysesHP:0003051
- Hearing impairmentHP:0000365
- Hypoplasia of the odontoid processHP:0003311
- Lattice retinal degenerationHP:0007992
- Metaphyseal wideningHP:0003016
- PlatyspondylyHP:0000926
- Retinal detachmentHP:0000541
- Rhegmatogenous retinal detachmentHP:0012230
- Short long boneHP:0003026
- Short thoraxHP:0010306
Occasional (29-5%)(12)
- Anterior vertebral fusionHP:0004557
- Bilateral ptosisHP:0001488
- CataractHP:0000518
- Coronal cleft vertebraeHP:0003417
- Delayed patellar ossificationHP:0006454
- Dumbbell-shaped femurHP:0006375
- Erythematous plaqueHP:0025474
- Fused cervical vertebraeHP:0002949
- Lens luxationHP:0012019
- Pierre-Robin sequenceHP:0000201
- Short neckHP:0000470
- Vertebral wedgingHP:0008422
Very rare (<4-1%)(4)
- Abnormality of the respiratory systemHP:0002086
- LaryngotracheomalaciaHP:0008755
- MacrocephalyHP:0000256
- Spinal cord compressionHP:0002176