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Craniofaciofrontodigital syndrome

ORPHA:363705 · Disease · Disorder

HPO 表現型（共 69 項）

Very frequent (99-80%)(4)

  • Coarse facial featuresHP:0000280
  • Congenital, generalized hypertrichosisHP:0004540
  • HypertrichosisHP:0000998
  • Thick hairHP:0100874

Frequent (79-30%)(23)

  • CardiomegalyHP:0001640
  • Cutis laxaHP:0000973
  • Depressed nasal bridgeHP:0005280
  • DyspneaHP:0002094
  • EdemaHP:0000969
  • Exercise intoleranceHP:0003546
  • Gastroesophageal refluxHP:0002020
  • Global developmental delayHP:0001263
  • HeadacheHP:0002315
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • HypotoniaHP:0001252
  • Joint hypermobilityHP:0001382
  • Long philtrumHP:0000343
  • MigraineHP:0002076
  • Palmoplantar cutis laxaHP:0007517
  • Patent ductus arteriosusHP:0001643
  • Pericardial effusionHP:0001698
  • PolyhydramniosHP:0001561
  • Premature birthHP:0001622
  • Premature skin wrinklingHP:0100678
  • Prominent superficial veinsHP:0001015
  • Respiratory distressHP:0002098
  • SeizureHP:0001250

Occasional (29-5%)(32)

  • Abnormal cerebral vascular morphologyHP:0100659
  • Abnormal heart valve morphologyHP:0001654
  • Anomalous branches of internal carotid arteryHP:0005314
  • Aortic valve stenosisHP:0001650
  • ArrhythmiaHP:0011675
  • Congestive heart failureHP:0001635
  • Dilatation of the cerebral arteryHP:0004944
  • EpicanthusHP:0000286
  • Finger joint hypermobilityHP:0006094
  • Gastrointestinal dysmotilityHP:0002579
  • Gastrointestinal hemorrhageHP:0002239
  • HemiparesisHP:0001269
  • HerniaHP:0100790
  • HypertelorismHP:0000316
  • Large for gestational ageHP:0001520
  • Low anterior hairlineHP:0000294
  • Lower eyelid edemaHP:0012568
  • MacroglossiaHP:0000158
  • Mitral regurgitationHP:0001653
  • Pectus carinatumHP:0000768
  • Persistent fetal circulationHP:0011726
  • Prominent foreheadHP:0011220
  • Prominent median palatal rapheHP:0002708
  • ProptosisHP:0000520
  • Pulmonary arterial hypertensionHP:0002092
  • Sacral hypertrichosisHP:0004532
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Skeletal dysplasiaHP:0002652
  • Specific learning disabilityHP:0001328
  • StrokeHP:0001297
  • Thick vermilion borderHP:0012471

Very rare (<4-1%)(10)

  • Atrial septal defectHP:0001631
  • Bicuspid aortic valveHP:0001647
  • Coarctation of aortaHP:0001680
  • Gingival overgrowthHP:0000212
  • Large handsHP:0001176
  • Mild intellectual disabilityHP:0001256
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Pyloric stenosisHP:0002021
  • Ventricular septal defectHP:0001629