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Cardiofaciocutaneous syndrome

ORPHA:1340 · Malformation syndrome · Disorder

HPO 表現型（共 79 項）

Very frequent (99-80%)(27)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal eyelash morphologyHP:0000499
  • Abnormal heart valve morphologyHP:0001654
  • Abnormal speech patternHP:0002167
  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • Anteverted naresHP:0000463
  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • Atrial septal defectHP:0001631
  • Brittle hairHP:0002299
  • Coarse facial featuresHP:0000280
  • Dry skinHP:0000958
  • Excessive wrinkled skinHP:0007392
  • Failure to thrive in infancyHP:0001531
  • Feeding difficulties in infancyHP:0008872
  • Fine hairHP:0002213
  • Full cheeksHP:0000293
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Long faceHP:0000276
  • Long palpebral fissureHP:0000637
  • Palmoplantar keratodermaHP:0000982
  • Pulmonic stenosisHP:0001642
  • Short statureHP:0004322
  • Thickened helicesHP:0000391
  • Underdeveloped supraorbital ridgesHP:0009891

Frequent (79-30%)(39)

  • Abnormal morphology of ulnaHP:0040071
  • Biparietal narrowingHP:0004422
  • Cavernous hemangiomaHP:0001048
  • CryptorchidismHP:0000028
  • Deep palmar creaseHP:0006191
  • Depressed nasal bridgeHP:0005280
  • Downslanted palpebral fissuresHP:0000494
  • Dystrophic fingernailsHP:0008391
  • EEG abnormalityHP:0002353
  • EpicanthusHP:0000286
  • Frontal bossingHP:0002007
  • Generalized hyperpigmentationHP:0007440
  • High foreheadHP:0000348
  • High palateHP:0000218
  • Hyperextensible skinHP:0000974
  • HyperkeratosisHP:0000962
  • HypertelorismHP:0000316
  • Hypoplasia of the zygomatic boneHP:0010669
  • IchthyosisHP:0008064
  • Long philtrumHP:0000343
  • Low posterior hairlineHP:0002162
  • MacrocephalyHP:0000256
  • MacrotiaHP:0000400
  • Multiple cafe-au-lait spotsHP:0007565
  • Multiple lentiginesHP:0001003
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • Pectus excavatumHP:0000767
  • Posteriorly rotated earsHP:0000358
  • Premature birthHP:0001622
  • PtosisHP:0000508
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Slow-growing hairHP:0002217
  • Sparse hairHP:0008070
  • Sparse or absent eyelashesHP:0200102
  • StrabismusHP:0000486
  • Webbed neckHP:0000465

Occasional (29-5%)(13)

  • Abnormality of the gastrointestinal tractHP:0011024
  • Cerebral cortical atrophyHP:0002120
  • Cubitus valgusHP:0002967
  • DysarthriaHP:0001260
  • Functional abnormality of the gastrointestinal tractHP:0012719
  • Genu valgumHP:0002857
  • HydrocephalusHP:0000238
  • HydronephrosisHP:0000126
  • Hypertrophic cardiomyopathyHP:0001639
  • LymphedemaHP:0001004
  • Optic atrophyHP:0000648
  • Redundant skinHP:0001582
  • Submucous cleft hard palateHP:0000176