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Emanuel syndrome

ORPHA:96170 · Malformation syndrome · Disorder

HPO 表現型（共 80 項）

Very frequent (99-80%)(1)

  • Global developmental delayHP:0001263

Frequent (79-30%)(46)

  • Aortic valve stenosisHP:0001650
  • Broad jawHP:0012802
  • Cerebral atrophyHP:0002059
  • Congenital hip dislocationHP:0001374
  • ConstipationHP:0002019
  • CryptorchidismHP:0000028
  • Deeply set eyeHP:0000490
  • Delayed eruption of teethHP:0000684
  • Delayed speech and language developmentHP:0000750
  • Dental crowdingHP:0000678
  • DysphagiaHP:0002015
  • Ectopic anusHP:0004397
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Gastroesophageal refluxHP:0002020
  • Generalized hypotoniaHP:0001290
  • Growth delayHP:0001510
  • Hearing impairmentHP:0000365
  • High palateHP:0000218
  • Hooded eyelidHP:0030820
  • HypogonadismHP:0000135
  • InfertilityHP:0000789
  • Intellectual disabilityHP:0001249
  • KyphoscoliosisHP:0002751
  • Long philtrumHP:0000343
  • Low hanging columellaHP:0009765
  • Low-set earsHP:0000369
  • Low-set nipplesHP:0002562
  • MacrotiaHP:0000400
  • MicrognathiaHP:0000347
  • MicropenisHP:0000054
  • MyopiaHP:0000545
  • Preauricular pitHP:0004467
  • Preauricular skin tagHP:0000384
  • Pulmonic stenosisHP:0001642
  • Recurrent infectionsHP:0002719
  • Recurrent otitis mediaHP:0000403
  • Recurrent respiratory infectionsHP:0002205
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Single umbilical arteryHP:0001195
  • StrabismusHP:0000486
  • Supernumerary ribsHP:0005815
  • Tooth malpositionHP:0000692
  • Truncus arteriosusHP:0001660
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(33)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormality of the ankleHP:0003028
  • Agenesis of corpus callosumHP:0001274
  • Anal atresiaHP:0002023
  • AstigmatismHP:0000483
  • Atrial septal defectHP:0001631
  • Bifid uvulaHP:0000193
  • Breech presentationHP:0001623
  • Chiari malformationHP:0002308
  • Cleft palateHP:0000175
  • Congenital diaphragmatic herniaHP:0000776
  • CoughHP:0012735
  • Dandy-Walker malformationHP:0001305
  • Decreased fetal movementHP:0001558
  • HydrocephalusHP:0000238
  • HypermetropiaHP:0000540
  • Inguinal herniaHP:0000023
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Multiple joint contracturesHP:0002828
  • OligohydramniosHP:0001562
  • Patent ductus arteriosusHP:0001643
  • Premature birthHP:0001622
  • PtosisHP:0000508
  • Recurrent Candida infectionHP:0005401
  • Redundant neck skinHP:0005989
  • Renal hypoplasiaHP:0000089
  • Sacral dimpleHP:0000960
  • Severe hearing impairmentHP:0012714
  • Submucous cleft lipHP:0009101
  • Unilateral renal agenesisHP:0000122
  • Ventricular septal defectHP:0001629
  • VentriculomegalyHP:0002119