← 返回搜尋

Geroderma osteodysplastica

ORPHA:2078 · Malformation syndrome · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(12)

  • Abnormal bone ossificationHP:0011849
  • Abnormal vertebral body morphologyHP:0003312
  • Beaking of vertebral bodiesHP:0004568
  • Biconcave vertebral bodiesHP:0004586
  • Hyperextensible skinHP:0000974
  • Joint hypermobilityHP:0001382
  • OsteoporosisHP:0000939
  • Recurrent fracturesHP:0002757
  • Redundant skinHP:0001582
  • Severe short statureHP:0003510
  • Thin skinHP:0000963
  • Vertebral compression fractureHP:0002953

Frequent (79-30%)(4)

  • Growth delayHP:0001510
  • Hip dislocationHP:0002827
  • HypotoniaHP:0001252
  • ScoliosisHP:0002650

Occasional (29-5%)(14)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • Global developmental delayHP:0001263
  • HerniaHP:0100790
  • Malar flatteningHP:0000272
  • Mandibular prognathiaHP:0000303
  • MicrocorneaHP:0000482
  • Mild intellectual disabilityHP:0001256
  • Pectus carinatumHP:0000768
  • Pes planusHP:0001763
  • PlatyspondylyHP:0000926
  • Prematurely aged appearanceHP:0007495
  • TalipesHP:0001883