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Wolf-Hirschhorn syndrome

ORPHA:280 · Malformation syndrome · Disorder

HPO 表現型（共 95 項）

Very frequent (99-80%)(29)

  • Abnormal lip morphologyHP:0000159
  • Abnormality of the mouthHP:0000153
  • Abnormality of the philtrumHP:0000288
  • AtaxiaHP:0001251
  • Decreased fetal movementHP:0001558
  • DolichocephalyHP:0000268
  • Downslanted palpebral fissuresHP:0000494
  • Downturned corners of mouthHP:0002714
  • EpicanthusHP:0000286
  • Failure to thriveHP:0001508
  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • High anterior hairlineHP:0009890
  • High foreheadHP:0000348
  • Highly arched eyebrowHP:0002553
  • HypertelorismHP:0000316
  • HypodontiaHP:0000668
  • HypospadiasHP:0000047
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • Low posterior hairlineHP:0002162
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • MicrotiaHP:0008551
  • Posteriorly rotated earsHP:0000358
  • SeizureHP:0001250
  • Severe intellectual disabilityHP:0010864
  • Short philtrumHP:0000322
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(42)

  • Abnormal cardiac septum morphologyHP:0001671
  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal foot morphologyHP:0001760
  • Abnormal heart valve morphologyHP:0001654
  • Abnormal thorax morphologyHP:0000765
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormal vertebral morphologyHP:0003468
  • Abnormality of the kidneyHP:0000077
  • Abnormality of the vertebral columnHP:0000925
  • Aplasia cutis congenita of scalpHP:0007385
  • Aplasia/Hypoplasia of the lungsHP:0006703
  • ArachnodactylyHP:0001166
  • Atrial septal defectHP:0001631
  • Calvarial skull defectHP:0001362
  • Cleft upper lipHP:0000204
  • Congenital diaphragmatic herniaHP:0000776
  • CryptorchidismHP:0000028
  • Decreased circulating IgA concentrationHP:0002720
  • Delayed eruption of teethHP:0000684
  • Delayed skeletal maturationHP:0002750
  • Dry skinHP:0000958
  • Feeding difficultiesHP:0011968
  • Hearing impairmentHP:0000365
  • HemangiomaHP:0001028
  • Hypoplastic pubic ramusHP:0008830
  • Iris colobomaHP:0000612
  • KyphosisHP:0002808
  • Optic atrophyHP:0000648
  • Preauricular pitHP:0004467
  • Preaxial hand polydactylyHP:0001177
  • PtosisHP:0000508
  • Rib fusionHP:0000902
  • Rib segmentation abnormalitiesHP:0006655
  • Sacral dimpleHP:0000960
  • ScoliosisHP:0002650
  • Short halluxHP:0010109
  • Short thumbHP:0009778
  • Sleep disturbanceHP:0002360
  • Split handHP:0001171
  • Talipes equinovarusHP:0001762
  • TaurodontiaHP:0000679
  • Tethered cordHP:0002144

Occasional (29-5%)(24)

  • Abdominal situs inversusHP:0003363
  • Abnormality of movementHP:0100022
  • Abnormality of the gallbladderHP:0005264
  • Abnormality of the genital systemHP:0000078
  • Abnormality of the immune systemHP:0002715
  • Abnormality of the urinary systemHP:0000079
  • Agenesis of corpus callosumHP:0001274
  • Aplasia of the uterusHP:0000151
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Aplasia/Hypoplasia of the nipplesHP:0006709
  • Chronic otitis mediaHP:0000389
  • Cleft palateHP:0000175
  • Disproportionate tall statureHP:0001519
  • GlaucomaHP:0000501
  • HerniaHP:0100790
  • MegalocorneaHP:0000485
  • NystagmusHP:0000639
  • OsteoporosisHP:0000939
  • ProptosisHP:0000520
  • Recurrent respiratory infectionsHP:0002205
  • RetinopathyHP:0000488
  • SclerocorneaHP:0000647
  • StrabismusHP:0000486
  • Streak ovaryHP:0010464