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Koolen-De Vries syndrome

ORPHA:96169 · Malformation syndrome · Disorder

HPO 表現型（共 82 項）

Very frequent (99-80%)(19)

  • BlepharophimosisHP:0000581
  • Broad foreheadHP:0000337
  • Bulbous noseHP:0000414
  • Coarse facial featuresHP:0000280
  • EpicanthusHP:0000286
  • Everted lower lip vermilionHP:0000232
  • Global developmental delayHP:0001263
  • High foreheadHP:0000348
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Long faceHP:0000276
  • Overfolded helixHP:0000396
  • Prominent nasal bridgeHP:0000426
  • Protruding earHP:0000411
  • PtosisHP:0000508
  • Thick nasal alaeHP:0009928
  • Underdeveloped nasal alaeHP:0000430
  • Upslanted palpebral fissureHP:0000582
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(29)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal heart morphologyHP:0001627
  • Abnormality of hair textureHP:0010719
  • Abnormality of the dentitionHP:0000164
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • ArachnodactylyHP:0001166
  • Atrial septal defectHP:0001631
  • CardiomyopathyHP:0001638
  • Chiari type I malformationHP:0007099
  • CryptorchidismHP:0000028
  • Delayed speech and language developmentHP:0000750
  • Feeding difficulties in infancyHP:0008872
  • High hypermetropiaHP:0008499
  • High, narrow palateHP:0002705
  • Hip dislocationHP:0002827
  • Hypernasal speechHP:0001611
  • Hypopigmentation of hairHP:0005599
  • HypospadiasHP:0000047
  • Intraventricular hemorrhageHP:0030746
  • Joint hypermobilityHP:0001382
  • MicrodontiaHP:0000691
  • Narrow palateHP:0000189
  • Optic atrophyHP:0000648
  • OverfriendlinessHP:0100025
  • Poor speechHP:0002465
  • SeizureHP:0001250
  • StrabismusHP:0000486
  • Ventricular septal defectHP:0001629
  • VentriculomegalyHP:0002119

Occasional (29-5%)(32)

  • Abnormal dental enamel morphologyHP:0000682
  • AnxietyHP:0000739
  • Attention deficit hyperactivity disorderHP:0007018
  • Bicuspid aortic valveHP:0001647
  • Cafe-au-lait spotHP:0000957
  • CataractHP:0000518
  • Cleft palateHP:0000175
  • Conductive hearing impairmentHP:0000405
  • Dry skinHP:0000958
  • HemangiomaHP:0001028
  • HydronephrosisHP:0000126
  • HypodontiaHP:0000668
  • HypothyroidismHP:0000821
  • IchthyosisHP:0008064
  • KyphosisHP:0002808
  • LaryngomalaciaHP:0001601
  • Long fingersHP:0100807
  • MicrocephalyHP:0000252
  • Numerous neviHP:0001054
  • Pectus excavatumHP:0000767
  • Pes planusHP:0001763
  • Pyloric stenosisHP:0002021
  • Renal duplicationHP:0000075
  • Sacral dimpleHP:0000960
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Spina bifidaHP:0002414
  • StutteringHP:0025268
  • Ureteral duplicationHP:0000073
  • Vertebral fusionHP:0002948
  • Vertebral segmentation defectHP:0003422
  • Vesicoureteral refluxHP:0000076

Very rare (<4-1%)(2)

  • Recurrent otitis mediaHP:0000403
  • Sensorineural hearing impairmentHP:0000407