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Campomelia, Cumming type

ORPHA:1318 · Malformation syndrome · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(16)

  • Abnormal rib morphologyHP:0000772
  • Abnormality of the pancreasHP:0001732
  • Bowing of the long bonesHP:0006487
  • BrachydactylyHP:0001156
  • Cleft palateHP:0000175
  • Clubbing of toesHP:0100760
  • Cystic hygromaHP:0000476
  • Death in infancyHP:0001522
  • DolichocephalyHP:0000268
  • MicromeliaHP:0002983
  • Multicystic kidney dysplasiaHP:0000003
  • Multiple renal cystsHP:0005562
  • OligohydramniosHP:0001562
  • Pancreatic cystsHP:0001737
  • Prematurely aged appearanceHP:0007495
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(6)

  • Abnormal thorax morphologyHP:0000765
  • Abnormally ossified vertebraeHP:0100569
  • HepatomegalyHP:0002240
  • Hydrops fetalisHP:0001789
  • MyelodysplasiaHP:0002863
  • Skin dimpleHP:0010781

Occasional (29-5%)(5)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal intestine morphologyHP:0002242
  • Aplasia/Hypoplasia affecting the eyeHP:0008056
  • Coarse facial featuresHP:0000280
  • LymphedemaHP:0001004