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Phocomelia, Schinzel type

ORPHA:2879 · Malformation syndrome · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(12)

  • Abnormal tibia morphologyHP:0002992
  • Aplasia of the ulnaHP:0003982
  • Aplasia/Hypoplasia involving the pelvisHP:0009103
  • Aplasia/Hypoplasia of the sacrumHP:0008517
  • Bowing of the long bonesHP:0006487
  • Disproportionate short statureHP:0003498
  • EctrodactylyHP:0100257
  • Fibular aplasiaHP:0002990
  • Finger aplasiaHP:0009380
  • Foot oligodactylyHP:0001849
  • MicromeliaHP:0002983
  • Nail dysplasiaHP:0002164

Frequent (79-30%)(6)

  • Aplasia of the uterusHP:0000151
  • Hypoplasia of the radiusHP:0002984
  • Intrauterine growth retardationHP:0001511
  • MicrognathiaHP:0000347
  • Radial bowingHP:0002986
  • Short neckHP:0000470

Occasional (29-5%)(13)

  • Anal atresiaHP:0002023
  • Calvarial skull defectHP:0001362
  • Cleft palateHP:0000175
  • CryptorchidismHP:0000028
  • High, narrow palateHP:0002705
  • Humeroradial synostosisHP:0003041
  • Hydrops fetalisHP:0001789
  • Hypoplasia of penisHP:0008736
  • MeningoceleHP:0002435
  • Protruding earHP:0000411
  • Short noseHP:0003196
  • TalipesHP:0001883
  • Tracheoesophageal fistulaHP:0002575