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Trisomy 17p syndrome

ORPHA:261290 · Malformation syndrome · Disorder

HPO 表現型（共 50 項）

Very frequent (99-80%)(9)

  • Clinodactyly of the 5th fingerHP:0004209
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • Low-set earsHP:0000369
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Short statureHP:0004322

Frequent (79-30%)(16)

  • Flexion contractureHP:0001371
  • Generalized hirsutismHP:0002230
  • Growth delayHP:0001510
  • High palateHP:0000218
  • HydronephrosisHP:0000126
  • HypertelorismHP:0000316
  • HypertoniaHP:0001276
  • Hypoplasia of penisHP:0008736
  • Malar flatteningHP:0000272
  • Narrow mouthHP:0000160
  • Polycystic kidney dysplasiaHP:0000113
  • PtosisHP:0000508
  • Short neckHP:0000470
  • Urethral stenosisHP:0008661
  • Urethral valveHP:0010481
  • Wide noseHP:0000445

Occasional (29-5%)(25)

  • Aortic valve stenosisHP:0001650
  • Broad eyebrowHP:0011229
  • CataractHP:0000518
  • Cleft palateHP:0000175
  • Coarse facial featuresHP:0000280
  • Downslanted palpebral fissuresHP:0000494
  • Hearing impairmentHP:0000365
  • High anterior hairlineHP:0009890
  • HydrocephalusHP:0000238
  • Hypoplastic left ventricleHP:0004383
  • Low posterior hairlineHP:0002162
  • MacroglossiaHP:0000158
  • Orofacial cleftHP:0000202
  • Patent ductus arteriosusHP:0001643
  • Prominent metopic ridgeHP:0005487
  • Prominent noseHP:0000448
  • ScoliosisHP:0002650
  • Skeletal muscle atrophyHP:0003202
  • Smooth philtrumHP:0000319
  • StrabismusHP:0000486
  • TalipesHP:0001883
  • Tapered fingerHP:0001182
  • Thick nasal alaeHP:0009928
  • Thick vermilion borderHP:0012471
  • Wide mouthHP:0000154