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Schwartz-Jampel syndrome

ORPHA:800 · Disease · Disorder

HPO 表現型（共 112 項）

Very frequent (99-80%)(26)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal metaphysis morphologyHP:0000944
  • Arthrogryposis multiplex congenitaHP:0002804
  • Bowing of the long bonesHP:0006487
  • Elevated circulating aldolase concentrationHP:0012544
  • Elevated circulating creatine kinase activityHP:0003236
  • EMG abnormalityHP:0003457
  • Everted lower lip vermilionHP:0000232
  • Full cheeksHP:0000293
  • Gait disturbanceHP:0001288
  • Genu valgumHP:0002857
  • Hip dysplasiaHP:0001385
  • HypertoniaHP:0001276
  • Intellectual disabilityHP:0001249
  • Joint stiffnessHP:0001387
  • Metatarsus valgusHP:0010508
  • MicromeliaHP:0002983
  • MyotoniaHP:0002486
  • Narrow mouthHP:0000160
  • Pes planusHP:0001763
  • Posteriorly rotated earsHP:0000358
  • Pursed lipsHP:0000205
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652
  • TrismusHP:0000211
  • Visual impairmentHP:0000505

Frequent (79-30%)(33)

  • Abnormal eyebrow morphologyHP:0000534
  • Abnormality of the pharynxHP:0000600
  • Abnormally high-pitched voiceHP:0001620
  • Abnormally ossified vertebraeHP:0100569
  • BlepharophimosisHP:0000581
  • CataractHP:0000518
  • Coxa valgaHP:0002673
  • Coxa varaHP:0002812
  • Flat faceHP:0012368
  • Flexion contracture of toeHP:0005830
  • High palateHP:0000218
  • Hip contractureHP:0003273
  • HyperlordosisHP:0003307
  • HyporeflexiaHP:0001265
  • KyphosisHP:0002808
  • Mask-like faciesHP:0000298
  • MicrognathiaHP:0000347
  • MyopathyHP:0003198
  • MyopiaHP:0000545
  • OsteoporosisHP:0000939
  • Overfolded helixHP:0000396
  • Pectus carinatumHP:0000768
  • PlatyspondylyHP:0000926
  • Prominent nasal bridgeHP:0000426
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Shoulder flexion contractureHP:0003044
  • Skeletal muscle hypertrophyHP:0003712
  • Spinal rigidityHP:0003306
  • StrabismusHP:0000486
  • Weak voiceHP:0001621
  • Wrist flexion contractureHP:0001239

Occasional (29-5%)(53)

  • Abnormal rib morphologyHP:0000772
  • Abnormal speech patternHP:0002167
  • Abnormality of immune system physiologyHP:0010978
  • Abnormality of the ureterHP:0000069
  • Abnormality of the urinary systemHP:0000079
  • Abnormally straight spineHP:0100795
  • AnxietyHP:0000739
  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • ApneaHP:0002104
  • ArrhythmiaHP:0011675
  • Attention deficit hyperactivity disorderHP:0007018
  • BlepharospasmHP:0000643
  • CachexiaHP:0004326
  • Cleft palateHP:0000175
  • Death in infancyHP:0001522
  • Decreased body weightHP:0004325
  • Decreased testicular sizeHP:0008734
  • Delayed skeletal maturationHP:0002750
  • Dental malocclusionHP:0000689
  • DistichiasisHP:0009743
  • DysphoniaHP:0001618
  • Ectopia lentisHP:0001083
  • Elbow dislocationHP:0003042
  • Feeding difficulties in infancyHP:0008872
  • Generalized hirsutismHP:0002230
  • HypertelorismHP:0000316
  • Increased bone mineral densityHP:0011001
  • Inguinal herniaHP:0000023
  • IrritabilityHP:0000737
  • Kidney stoneHP:0000787
  • LaryngomalaciaHP:0001601
  • Long eyelashes in irregular rowsHP:0007740
  • Long philtrumHP:0000343
  • Low anterior hairlineHP:0000294
  • Malignant hyperthermiaHP:0002047
  • MicrocephalyHP:0000252
  • MicrocorneaHP:0000482
  • Muscle weaknessHP:0001324
  • MyalgiaHP:0003326
  • Odontogenic neoplasmHP:0100612
  • Pectus excavatumHP:0000767
  • PolyhydramniosHP:0001561
  • Prenatal movement abnormalityHP:0001557
  • Protrusio acetabuliHP:0003179
  • Pulmonary arterial hypertensionHP:0002092
  • Respiratory insufficiencyHP:0002093
  • Skeletal muscle atrophyHP:0003202
  • Sprengel anomalyHP:0000912
  • Supernumerary toothHP:0011069
  • Talipes equinovarusHP:0001762
  • Testicular torsionHP:0100813
  • Umbilical herniaHP:0001537
  • Wormian bonesHP:0002645