← 返回搜尋

Intermediate osteopetrosis

ORPHA:210110 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(1)

  • Abnormality of bone mineral densityHP:0004348

Frequent (79-30%)(8)

  • Back painHP:0003418
  • Cortical sclerosisHP:0005652
  • Erlenmeyer flask deformity of the femursHP:0004975
  • Generalized osteosclerosisHP:0005789
  • Increased susceptibility to fracturesHP:0002659
  • Osteosclerosis of the base of the skullHP:0005746
  • Recurrent fracturesHP:0002757
  • Sandwich appearance of vertebral bodiesHP:0004618

Occasional (29-5%)(3)

  • Abnormality of the nervous systemHP:0000707
  • AnemiaHP:0001903
  • Elevated circulating alkaline phosphatase concentrationHP:0003155

Very rare (<4-1%)(9)

  • Abnormal dental morphologyHP:0006482
  • Abnormality of the dentitionHP:0000164
  • Chronic infectionHP:0031035
  • Cranial nerve compressionHP:0001293
  • Dental malocclusionHP:0000689
  • HepatosplenomegalyHP:0001433
  • Optic atrophy from cranial nerve compressionHP:0007958
  • OsteomyelitisHP:0002754
  • Visual impairmentHP:0000505

Excluded (0%)(2)

  • HypocalcemiaHP:0002901
  • ThrombocytopeniaHP:0001873