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Smith-Magenis syndrome

ORPHA:819 · Malformation syndrome · Disorder

HPO 表現型（共 95 項）

Very frequent (99-80%)(31)

  • Abnormal pineal melatonin secretionHP:0012689
  • Abnormal speech patternHP:0002167
  • Abnormal tracheobronchial morphologyHP:0005607
  • Abnormality of the dentitionHP:0000164
  • AnxietyHP:0000739
  • Attention deficit hyperactivity disorderHP:0007018
  • BrachycephalyHP:0000248
  • BrachydactylyHP:0001156
  • Broad foreheadHP:0000337
  • Deeply set eyeHP:0000490
  • Delayed eruption of primary teethHP:0000680
  • Delayed speech and language developmentHP:0000750
  • Depressed nasal bridgeHP:0005280
  • Frontal bossingHP:0002007
  • Global developmental delayHP:0001263
  • Hoarse voiceHP:0001609
  • HyporeflexiaHP:0001265
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Large faceHP:0100729
  • Midface retrusionHP:0011800
  • Motor stereotypyHP:0000733
  • ObesityHP:0001513
  • Recurrent otitis mediaHP:0000403
  • Self-injurious behaviorHP:0100716
  • Sleep disturbanceHP:0002360
  • SynophrysHP:0000664
  • TaurodontiaHP:0000679
  • Tented upper lip vermilionHP:0010804
  • Upslanted palpebral fissureHP:0000582
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(46)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal heart morphologyHP:0001627
  • Abnormal temper tantrumsHP:0025160
  • Anteverted naresHP:0000463
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Broad palmHP:0001169
  • Clinodactyly of the 5th fingerHP:0004209
  • Coarse facial featuresHP:0000280
  • Cognitive impairmentHP:0100543
  • Conductive hearing impairmentHP:0000405
  • ConstipationHP:0002019
  • Decreased fetal movementHP:0001558
  • EEG abnormalityHP:0002353
  • Failure to thrive in infancyHP:0001531
  • Feeding difficulties in infancyHP:0008872
  • Gait disturbanceHP:0001288
  • Gastroesophageal refluxHP:0002020
  • HyperacusisHP:0010780
  • HypercholesterolemiaHP:0003124
  • HypertelorismHP:0000316
  • HypertriglyceridemiaHP:0002155
  • Impaired pain sensationHP:0007328
  • ImpulsivityHP:0100710
  • Mandibular prognathiaHP:0000303
  • MicrocorneaHP:0000482
  • MicrognathiaHP:0000347
  • MyopiaHP:0000545
  • OnychotillomaniaHP:0032509
  • Open mouthHP:0000194
  • Peripheral neuropathyHP:0009830
  • Pes planusHP:0001763
  • PolyembolokoilamaniaHP:0032508
  • Recurrent upper respiratory tract infectionsHP:0002788
  • ScoliosisHP:0002650
  • Short noseHP:0003196
  • Short philtrumHP:0000322
  • Short REM sleepHP:5200360
  • Short statureHP:0004322
  • Sleep-wake cycle disturbanceHP:0006979
  • Square faceHP:0000321
  • StrabismusHP:0000486
  • Tip-toe gaitHP:0030051
  • Toe syndactylyHP:0001770
  • Velopharyngeal insufficiencyHP:0000220
  • VentriculomegalyHP:0002119
  • Vocal cord polypHP:0032041

Occasional (29-5%)(18)

  • Abnormal localization of kidneyHP:0100542
  • Abnormality of the genitourinary systemHP:0000119
  • Abnormality of the ureterHP:0000069
  • ArrhythmiaHP:0011675
  • Cleft palateHP:0000175
  • Cleft upper lipHP:0000204
  • Decreased circulating IgA concentrationHP:0002720
  • Delayed pubertyHP:0000823
  • Hand polydactylyHP:0001161
  • HypothyroidismHP:0000821
  • Iris noduleHP:0034819
  • Joint stiffnessHP:0001387
  • MicrocephalyHP:0000252
  • Precocious pubertyHP:0000826
  • Renal hypoplasia/aplasiaHP:0008678
  • Retinal detachmentHP:0000541
  • SeizureHP:0001250
  • Sleep apneaHP:0010535