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Pfeiffer syndrome type 2

ORPHA:93259 · Clinical subtype · Subtype of disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(16)

  • Broad hallux phalanxHP:0010059
  • Broad thumbHP:0011304
  • Chiari malformationHP:0002308
  • Cloverleaf skullHP:0002676
  • Depressed nasal bridgeHP:0005280
  • Deviation of the thumbHP:0009603
  • Hallux varusHP:0008080
  • High foreheadHP:0000348
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Limitation of joint mobilityHP:0001376
  • Malar flatteningHP:0000272
  • ProptosisHP:0000520
  • Respiratory distressHP:0002098
  • Short halluxHP:0010109
  • Short noseHP:0003196

Frequent (79-30%)(14)

  • Aqueductal stenosisHP:0002410
  • Atresia of the external auditory canalHP:0000413
  • Choanal atresiaHP:0000453
  • Finger syndactylyHP:0006101
  • Global developmental delayHP:0001263
  • HydrocephalusHP:0000238
  • Intellectual disabilityHP:0001249
  • LaryngomalaciaHP:0001601
  • Low-set earsHP:0000369
  • SeizureHP:0001250
  • Short footHP:0001773
  • Small handHP:0200055
  • Toe syndactylyHP:0001770
  • TracheomalaciaHP:0002779

Occasional (29-5%)(5)

  • Anal atresiaHP:0002023
  • Cleft palateHP:0000175
  • Increased intracranial pressureHP:0002516
  • Intestinal malrotationHP:0002566
  • Visual lossHP:0000572