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Albers-Schönberg osteopetrosis

ORPHA:53 · Malformation syndrome · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(17)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal metaphysis morphologyHP:0000944
  • ArthritisHP:0001369
  • Avascular necrosisHP:0010885
  • Bone painHP:0002653
  • Cranial nerve paralysisHP:0006824
  • Facial palsyHP:0010628
  • Frontal bossingHP:0002007
  • Generalized osteosclerosisHP:0005789
  • Joint dislocationHP:0001373
  • MacrocephalyHP:0000256
  • Mandibular osteomyelitisHP:0007626
  • OsteoarthritisHP:0002758
  • OsteomyelitisHP:0002754
  • Recurrent fracturesHP:0002757
  • Short distal phalanx of fingerHP:0009882

Frequent (79-30%)(7)

  • Abnormality of the dentitionHP:0000164
  • AnemiaHP:0001903
  • FatigueHP:0012378
  • Genu valgumHP:0002857
  • Optic atrophyHP:0000648
  • ScoliosisHP:0002650
  • Short statureHP:0004322

Occasional (29-5%)(10)

  • Abnormal leukocyte morphologyHP:0001881
  • Abnormality of multiple cell lineages in the bone marrowHP:0012145
  • BlindnessHP:0000618
  • Carious teethHP:0000670
  • Hearing impairmentHP:0000365
  • HydrocephalusHP:0000238
  • HypocalcemiaHP:0002901
  • Osteosclerosis of the base of the skullHP:0005746
  • ThrombocytopeniaHP:0001873
  • Tooth abscessHP:0030757

Very rare (<4-1%)(2)

  • Cranial nerve compressionHP:0001293
  • Visual impairmentHP:0000505