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Spondyloenchondrodysplasia

ORPHA:1855 · Malformation syndrome · Disorder

HPO 表現型（共 52 項）

Very frequent (99-80%)(3)

  • Antinuclear antibody positivityHP:0003493
  • Metaphyseal dysplasiaHP:0100255
  • PlatyspondylyHP:0000926

Frequent (79-30%)(6)

  • Anti-dsDNA antibody positivityHP:0020151
  • AutoimmunityHP:0002960
  • Brain imaging abnormalityHP:0410263
  • Chronic kidney diseaseHP:0012622
  • Short statureHP:0004322
  • SpasticityHP:0001257

Occasional (29-5%)(33)

  • Abnormal lateral ventricle morphologyHP:0030047
  • Abnormal periventricular white matter morphologyHP:0002518
  • Abnormality of the nervous systemHP:0000707
  • ArthritisHP:0001369
  • Autoimmune hemolytic anemiaHP:0001890
  • Autoimmune thrombocytopeniaHP:0001973
  • Bowing of the legsHP:0002979
  • Cerebral calcificationHP:0002514
  • ChoreaHP:0002072
  • Delayed eruption of teethHP:0000684
  • Dental malocclusionHP:0000689
  • Disproportionate short-trunk short statureHP:0003521
  • EnchondromaHP:0030038
  • Global developmental delayHP:0001263
  • GranulomaHP:0032252
  • HeadacheHP:0002315
  • HematuriaHP:0000790
  • HepatitisHP:0012115
  • HypertensionHP:0000822
  • Hypoplastic iliaHP:0000946
  • Intellectual disabilityHP:0001249
  • Juvenile rheumatoid arthritisHP:0005681
  • Limb undergrowthHP:0009826
  • Lower limb painHP:0012514
  • Motor delayHP:0001270
  • MyalgiaHP:0003326
  • ProteinuriaHP:0000093
  • Raynaud phenomenonHP:0030880
  • Recurrent infectionsHP:0002719
  • Short distal phalanx of fingerHP:0009882
  • Systemic lupus erythematosusHP:0002725
  • VasculitisHP:0002633
  • VentriculomegalyHP:0002119

Very rare (<4-1%)(10)

  • Decreased response to growth hormone stimulation testHP:0000824
  • HypothyroidismHP:0000821
  • KyphosisHP:0002808
  • Midface retrusionHP:0011800
  • PancytopeniaHP:0001876
  • Pectus carinatumHP:0000768
  • PneumoniaHP:0002090
  • SeizureHP:0001250
  • Skin rashHP:0000988
  • VitiligoHP:0001045