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Pelvis-shoulder dysplasia

ORPHA:2839 · Malformation syndrome · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(1)

  • Multiple skeletal anomaliesHP:0005775

Frequent (79-30%)(40)

  • Abnormal pinna morphologyHP:0000377
  • Abnormal vertebral body morphologyHP:0003312
  • Absent proximal finger flexion creasesHP:0006077
  • Acetabular dysplasiaHP:0008807
  • Ambiguous genitaliaHP:0000062
  • Aplasia/Hypoplasia of the claviclesHP:0006710
  • Aplasia/hypoplasia of the femurHP:0005613
  • Aplasia/Hypoplasia of the fibulaHP:0006492
  • Aplasia/Hypoplasia of the ribsHP:0006712
  • Aplasia/Hypoplasia of the scapulaeHP:0006713
  • Bell-shaped thoraxHP:0001591
  • Bilateral microphthalmosHP:0007633
  • Camptodactyly of fingerHP:0100490
  • Cleft palateHP:0000175
  • Dislocated radial headHP:0003083
  • Facial hirsutismHP:0009937
  • Fifth finger distal phalanx clinodactylyHP:0005769
  • HydranencephalyHP:0002324
  • HydrocephalusHP:0000238
  • HydronephrosisHP:0000126
  • Hypoplastic ischiaHP:0003175
  • Hypoplastic pubic boneHP:0003173
  • Iris colobomaHP:0000612
  • Long clavicleHP:0000890
  • Lumbar hyperlordosisHP:0002938
  • Mesomelic/rhizomelic limb shorteningHP:0005026
  • MicrocorneaHP:0000482
  • MicroglossiaHP:0000171
  • MicrognathiaHP:0000347
  • MicrotiaHP:0008551
  • Neonatal short-trunk short statureHP:0008857
  • Prominent protruding coccyxHP:0008472
  • Retinal colobomaHP:0000480
  • Short palpebral fissureHP:0012745
  • Short statureHP:0004322
  • Spina bifidaHP:0002414
  • SyndactylyHP:0001159
  • Talipes equinovarusHP:0001762
  • Thick anterior alveolar ridgesHP:0009100
  • Waddling gaitHP:0002515