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Fountain syndrome

ORPHA:3219 · Malformation syndrome · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(8)

  • BrachydactylyHP:0001156
  • Coarse facial featuresHP:0000280
  • Craniofacial hyperostosisHP:0004493
  • Facial edemaHP:0000282
  • Intellectual disabilityHP:0001249
  • Round faceHP:0000311
  • Sensorineural hearing impairmentHP:0000407
  • Thick lower lip vermilionHP:0000179

Frequent (79-30%)(7)

  • EEG abnormalityHP:0002353
  • Everted lower lip vermilionHP:0000232
  • Full cheeksHP:0000293
  • Hyperextensible skinHP:0000974
  • Midface retrusionHP:0011800
  • Subcutaneous noduleHP:0001482
  • Wide mouthHP:0000154

Occasional (29-5%)(29)

  • Abnormal foot morphologyHP:0001760
  • Abnormal metacarpal morphologyHP:0005916
  • Abnormal palate morphologyHP:0000174
  • Abnormal speech patternHP:0002167
  • Abnormal vertebral body morphologyHP:0003312
  • Coarse metaphyseal trabecularizationHP:0100670
  • Cutis marmorataHP:0000965
  • EpicanthusHP:0000286
  • ErythemaHP:0010783
  • Gingival overgrowthHP:0000212
  • HypertelorismHP:0000316
  • KyphosisHP:0002808
  • Large handsHP:0001176
  • Long faceHP:0000276
  • MacrocephalyHP:0000256
  • Metaphyseal dysplasiaHP:0100255
  • MyopiaHP:0000545
  • PapuleHP:0200034
  • Pectus excavatumHP:0000767
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Short distal phalanx of fingerHP:0009882
  • Short statureHP:0004322
  • Spina bifidaHP:0002414
  • Spina bifida occultaHP:0003298
  • SynophrysHP:0000664
  • Thick eyebrowHP:0000574
  • Visual impairmentHP:0000505