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Acrogeria

ORPHA:2500 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(9)

  • Abnormality of the skinHP:0000951
  • Aplasia/Hypoplasia of the skinHP:0008065
  • Fine hairHP:0002213
  • Irregular hyperpigmentationHP:0007400
  • Joint hypermobilityHP:0001382
  • LipoatrophyHP:0100578
  • Prematurely aged appearanceHP:0007495
  • Short statureHP:0004322
  • Thin skinHP:0000963

Frequent (79-30%)(8)

  • Convex nasal ridgeHP:0000444
  • Excessive wrinkled skinHP:0007392
  • Intellectual disabilityHP:0001249
  • MicrognathiaHP:0000347
  • ScoliosisHP:0002650
  • Short footHP:0001773
  • Small handHP:0200055
  • Telangiectasia of the skinHP:0100585

Occasional (29-5%)(2)

  • Skeletal dysplasiaHP:0002652
  • Skin ulcerHP:0200042