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Acromesomelic dysplasia, Grebe type

ORPHA:2098 · Malformation syndrome · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(13)

  • Aplasia of the middle phalanges of the toesHP:0100387
  • Aplasia/Hypoplasia involving the metacarpal bonesHP:0005914
  • Bowing of the long bonesHP:0006487
  • BrachydactylyHP:0001156
  • Disproportionate short-limb short statureHP:0008873
  • Joint stiffnessHP:0001387
  • MicromeliaHP:0002983
  • SarcomaHP:0100242
  • Short footHP:0001773
  • Short toeHP:0001831
  • Skeletal dysplasiaHP:0002652
  • Synostosis of carpal bonesHP:0005048
  • Tarsal synostosisHP:0008368

Frequent (79-30%)(4)

  • Aplasia/Hypoplasia of the thumbHP:0009601
  • Fibular hypoplasiaHP:0003038
  • Postaxial hand polydactylyHP:0001162
  • Short tibiaHP:0005736

Occasional (29-5%)(1)

  • Death in infancyHP:0001522