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Spondylometaphyseal dysplasia, 'corner fracture' type
ORPHA:93315 · Disease · Disorder
HPO 表現型（共 54 項）
Very frequent (99-80%)(6)
- Abnormal vertebral morphologyHP:0003468
- Corner fracture of metaphysisHP:0003908
- Coxa varaHP:0002812
- Metaphyseal irregularityHP:0003025
- Ovoid vertebral bodiesHP:0003300
- Short statureHP:0004322
Frequent (79-30%)(11)
- Abnormal bone ossificationHP:0011849
- Disproportionate short-trunk short statureHP:0003521
- Genu valgumHP:0002857
- Genu varumHP:0002970
- Limb painHP:0009763
- Limitation of joint mobilityHP:0001376
- Pectus carinatumHP:0000768
- ScoliosisHP:0002650
- Short long boneHP:0003026
- Short lower limbsHP:0006385
- Upper limb undergrowthHP:0009824
Occasional (29-5%)(23)
- Abnormal antitragus morphologyHP:0009896
- Biconcave vertebral bodiesHP:0004586
- Biconvex vertebral bodiesHP:0004625
- Facial asymmetryHP:0000324
- Flat faceHP:0012368
- High palateHP:0000218
- Intervertebral space narrowingHP:0002945
- Lower limb asymmetryHP:0100559
- Lumbar hyperlordosisHP:0002938
- MyopiaHP:0000545
- PlatyspondylyHP:0000926
- Pointed chinHP:0000307
- Posteriorly rotated earsHP:0000358
- Preauricular skin tagHP:0000384
- ProptosisHP:0000520
- Protruding earHP:0000411
- Small earlobeHP:0000385
- Tibial bowingHP:0002982
- Underfolded helixHP:0008577
- Vertebral fusionHP:0002948
- Vertebral hypoplasiaHP:0008417
- Vertebral wedgingHP:0008422
- Visual impairmentHP:0000505
Very rare (<4-1%)(14)
- Abnormal circulating osteocalcin levelHP:0031427
- Abnormality of the dentitionHP:0000164
- Avascular necrosis of the capital femoral epiphysisHP:0005743
- C1-C2 vertebral abnormalityHP:0008440
- ClinodactylyHP:0030084
- Hypoplastic iliac wingHP:0002866
- Increased susceptibility to fracturesHP:0002659
- Increased urinary type 1 collagen N-terminal telopeptide levelHP:0032208
- Iron deficiency anemiaHP:0001891
- Ocular hypertensionHP:0007906
- Reduced bone mineral densityHP:0004349
- Short distal phalanx of fingerHP:0009882
- Short neckHP:0000470
- StrabismusHP:0000486