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Osteopathia striata-cranial sclerosis syndrome

ORPHA:2780 · Malformation syndrome · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(8)

  • Abnormal metaphysis morphologyHP:0000944
  • Coarse metaphyseal trabecularizationHP:0100670
  • Facial hyperostosisHP:0005465
  • High iliac wingHP:0008808
  • Increased bone mineral densityHP:0011001
  • Large iliac wingHP:0008818
  • OsteopetrosisHP:0011002
  • Thickened calvariaHP:0002684

Frequent (79-30%)(14)

  • Bifid uvulaHP:0000193
  • Cleft palateHP:0000175
  • Conductive hearing impairmentHP:0000405
  • Delayed cranial suture closureHP:0000270
  • Delayed eruption of teethHP:0000684
  • Flat occiputHP:0005469
  • Frontal bossingHP:0002007
  • High, narrow palateHP:0002705
  • Large fontanellesHP:0000239
  • MacrocephalyHP:0000256
  • Prominent foreheadHP:0011220
  • ScoliosisHP:0002650
  • Submucous cleft hard palateHP:0000176
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(22)

  • Aortic valve stenosisHP:0001650
  • AphasiaHP:0002381
  • Asymmetry of the thoraxHP:0001555
  • BrachycephalyHP:0000248
  • CataractHP:0000518
  • Cerebral calcificationHP:0002514
  • Coarctation of aortaHP:0001680
  • EcholaliaHP:0010529
  • EpicanthusHP:0000286
  • Facial palsyHP:0010628
  • Flat faceHP:0012368
  • Global developmental delayHP:0001263
  • HyperlordosisHP:0003307
  • Intellectual disabilityHP:0001249
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • MutismHP:0002300
  • Posteriorly rotated earsHP:0000358
  • RetrognathiaHP:0000278
  • Severe short statureHP:0003510
  • Specific learning disabilityHP:0001328
  • Spina bifida occultaHP:0003298