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Jacobsen syndrome

ORPHA:2308 · Malformation syndrome · Disorder

HPO 表現型（共 76 項）

Very frequent (99-80%)(6)

  • Bone marrow hypocellularityHP:0005528
  • Feeding difficulties in infancyHP:0008872
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Intellectual disabilityHP:0001249
  • ThrombocytopeniaHP:0001873

Frequent (79-30%)(36)

  • Abnormal vertebral body morphologyHP:0003312
  • Anteverted naresHP:0000463
  • Aplasia/Hypoplasia of the earlobesHP:0009906
  • Aplasia/Hypoplasia of the eyebrowHP:0100840
  • Attention deficit hyperactivity disorderHP:0007018
  • Broad columellaHP:0010761
  • Broad hallux phalanxHP:0010059
  • ConstipationHP:0002019
  • CryptorchidismHP:0000028
  • Downslanted palpebral fissuresHP:0000494
  • EpicanthusHP:0000286
  • Facial asymmetryHP:0000324
  • Finger syndactylyHP:0006101
  • Frontal bossingHP:0002007
  • High foreheadHP:0000348
  • HypertelorismHP:0000316
  • Long halluxHP:0001847
  • Long philtrumHP:0000343
  • MacrocephalyHP:0000256
  • MicrocorneaHP:0000482
  • Missing ribsHP:0000921
  • Pes planusHP:0001763
  • Posteriorly rotated earsHP:0000358
  • Premature birthHP:0001622
  • PtosisHP:0000508
  • Recurrent respiratory infectionsHP:0002205
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Short toeHP:0001831
  • Smooth philtrumHP:0000319
  • StrabismusHP:0000486
  • Toe clinodactylyHP:0001863
  • Toe syndactylyHP:0001770
  • Ventricular septal defectHP:0001629
  • VentriculomegalyHP:0002119

Occasional (29-5%)(34)

  • Abnormal palate morphologyHP:0000174
  • Abnormality of the anusHP:0004378
  • Agenesis of corpus callosumHP:0001274
  • Annular pancreasHP:0001734
  • Aortic valve stenosisHP:0001650
  • Bipolar affective disorderHP:0007302
  • CataractHP:0000518
  • Cerebral atrophyHP:0002059
  • Coarctation of aortaHP:0001680
  • Death in infancyHP:0001522
  • Duodenal atresiaHP:0002247
  • Ectopic anusHP:0004397
  • EctropionHP:0000656
  • Eczematoid dermatitisHP:0000964
  • Eyelid colobomaHP:0000625
  • Hand polydactylyHP:0001161
  • Hip dislocationHP:0002827
  • HydronephrosisHP:0000126
  • Hypoplastic left ventricleHP:0004383
  • Inguinal herniaHP:0000023
  • Intestinal malrotationHP:0002566
  • Intrauterine growth retardationHP:0001511
  • Iris colobomaHP:0000612
  • Multicystic kidney dysplasiaHP:0000003
  • PachygyriaHP:0001302
  • Pyloric stenosisHP:0002021
  • SchizophreniaHP:0100753
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Spina bifidaHP:0002414
  • TalipesHP:0001883
  • TrigonocephalyHP:0000243
  • Webbed neckHP:0000465
  • Wide nasal bridgeHP:0000431