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KBG syndrome

ORPHA:2332 · Malformation syndrome · Disorder

HPO 表現型（共 40 項）

Frequent (79-30%)(35)

  • Abnormal hair patternHP:0010720
  • Abnormal skeletal morphologyHP:0011842
  • Anteverted naresHP:0000463
  • Bilateral conductive hearing impairmentHP:0008513
  • Cervical ribsHP:0000891
  • Cleft palateHP:0000175
  • CryptorchidismHP:0000028
  • Cutaneous syndactylyHP:0012725
  • Delayed skeletal maturationHP:0002750
  • Feeding difficultiesHP:0011968
  • Finger clinodactylyHP:0040019
  • Global developmental delayHP:0001263
  • HypertelorismHP:0000316
  • Long palpebral fissureHP:0000637
  • Long philtrumHP:0000343
  • MacrodontiaHP:0001572
  • MacrotiaHP:0000400
  • MicrocephalyHP:0000252
  • OligodontiaHP:0000677
  • Prominent nasal bridgeHP:0000426
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Short statureHP:0004322
  • Single transverse palmar creaseHP:0000954
  • StrabismusHP:0000486
  • SynophrysHP:0000664
  • TelecanthusHP:0000506
  • Thick eyebrowHP:0000574
  • Thin upper lip vermilionHP:0000219
  • Thoracic kyphosisHP:0002942
  • Triangular faceHP:0000325
  • Underdeveloped nasal alaeHP:0000430
  • Vertebral fusionHP:0002948
  • Webbed neckHP:0000465
  • Widely-spaced maxillary central incisorsHP:0001566

Occasional (29-5%)(5)

  • Congenital malformation of the left heartHP:0045017
  • EEG abnormalityHP:0002353
  • Persistent open anterior fontanelleHP:0004474
  • Round faceHP:0000311
  • SeizureHP:0001250