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Keipert syndrome

ORPHA:2662 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(11)

  • Aplasia/Hypoplasia of the distal phalanges of the toesHP:0010185
  • Broad distal phalanx of fingerHP:0009836
  • Broad foreheadHP:0000337
  • Broad hallux phalanxHP:0010059
  • Broad thumbHP:0011304
  • Depressed nasal bridgeHP:0005280
  • HypertelorismHP:0000316
  • Prominent nasal bridgeHP:0000426
  • Sensorineural hearing impairmentHP:0000407
  • Short distal phalanx of fingerHP:0009882
  • Short halluxHP:0010109

Frequent (79-30%)(10)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Aplastic/hypoplastic toenailHP:0010624
  • Clinodactyly of the 5th fingerHP:0004209
  • EpicanthusHP:0000286
  • Exaggerated cupid's bowHP:0002263
  • Hoarse voiceHP:0001609
  • Hypoplasia of the maxillaHP:0000327
  • MacrocephalyHP:0000256
  • PtosisHP:0000508
  • Tented upper lip vermilionHP:0010804

Occasional (29-5%)(3)

  • Atypical behaviorHP:0000708
  • Cognitive impairmentHP:0100543
  • Short statureHP:0004322