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Pelviscapular dysplasia

ORPHA:93333 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Obligate (100%)(11)

  • Abnormality of the joint spaces of the elbowHP:0003943
  • BrachydactylyHP:0001156
  • Congenital hip dislocationHP:0001374
  • Elbow flexion contractureHP:0002987
  • Humeroradial synostosisHP:0003041
  • Hypoplastic iliaHP:0000946
  • Hypoplastic scapulaeHP:0000882
  • MacrocephalyHP:0000256
  • Mesomelic leg shorteningHP:0004987
  • Short femurHP:0003097
  • Short neckHP:0000470

Very frequent (99-80%)(3)

  • Abnormal skull base morphologyHP:0002693
  • Low-set earsHP:0000369
  • Short statureHP:0004322

Frequent (79-30%)(10)

  • Abnormal pinna morphologyHP:0000377
  • BlepharophimosisHP:0000581
  • Deeply set eyeHP:0000490
  • Frontal bossingHP:0002007
  • Hearing impairmentHP:0000365
  • HypertelorismHP:0000316
  • Low posterior hairlineHP:0002162
  • Redundant neck skinHP:0005989
  • Stenosis of the external auditory canalHP:0000402
  • StrabismusHP:0000486