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COFS syndrome

ORPHA:1466 · Clinical subtype · Subtype of disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(20)

  • Abnormal nasal morphologyHP:0005105
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Arthrogryposis multiplex congenitaHP:0002804
  • Camptodactyly of fingerHP:0100490
  • CataractHP:0000518
  • Cerebral calcificationHP:0002514
  • Cerebral cortical atrophyHP:0002120
  • Death in infancyHP:0001522
  • Everted lower lip vermilionHP:0000232
  • Feeding difficulties in infancyHP:0008872
  • HypertoniaHP:0001276
  • HypotoniaHP:0001252
  • Joint stiffnessHP:0001387
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • MicrophthalmiaHP:0000568
  • Prominent metopic ridgeHP:0005487
  • Severe global developmental delayHP:0011344
  • Short statureHP:0004322
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(9)

  • Abnormality of immune system physiologyHP:0010978
  • Cutaneous photosensitivityHP:0000992
  • Diminished deep tendon reflexHP:0001315
  • HypogonadismHP:0000135
  • Intrauterine growth retardationHP:0001511
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Short neckHP:0000470
  • Visual impairmentHP:0000505

Occasional (29-5%)(4)

  • Abnormal retinal pigmentationHP:0007703
  • Optic atrophyHP:0000648
  • Peripheral neuropathyHP:0009830
  • TalipesHP:0001883