← 返回搜尋

Sotos syndrome

ORPHA:821 · Disease · Disorder

HPO 表現型（共 107 項）

Very frequent (99-80%)(3)

  • Coarse facial featuresHP:0000280
  • Increased arm spanHP:0012771
  • Tall statureHP:0000098

Frequent (79-30%)(24)

  • Accelerated skeletal maturationHP:0005616
  • AstigmatismHP:0000483
  • Atypical behaviorHP:0000708
  • Brain imaging abnormalityHP:0410263
  • Chronic otitis mediaHP:0000389
  • ConstipationHP:0002019
  • DolichocephalyHP:0000268
  • Downslanted palpebral fissuresHP:0000494
  • Feeding difficultiesHP:0011968
  • FlushingHP:0031284
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • HypotoniaHP:0001252
  • Increased head circumferenceHP:0040194
  • Joint hypermobilityHP:0001382
  • Long faceHP:0000276
  • Mild intellectual disabilityHP:0001256
  • Narrow faceHP:0000275
  • Prolonged neonatal jaundiceHP:0006579
  • Prominent foreheadHP:0011220
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Sparse anterior scalp hairHP:0004768
  • Tall chinHP:0400000

Occasional (29-5%)(34)

  • Abnormal heart morphologyHP:0001627
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the kidneyHP:0000077
  • Aggressive behaviorHP:0000718
  • AnxietyHP:0000739
  • Aortic aneurysmHP:0004942
  • Aplasia/Hypoplasia of the corpus callosumHP:0007370
  • Atrial septal defectHP:0001631
  • Autistic behaviorHP:0000729
  • Bilateral tonic-clonic seizureHP:0002069
  • Cavum septum pellucidumHP:0002389
  • Cerebellar vermis hypoplasiaHP:0001320
  • Cerebral atrophyHP:0002059
  • DyscalculiaHP:0002442
  • Enlarged cisterna magnaHP:0002280
  • Flexion contractureHP:0001371
  • Focal impaired awareness seizureHP:0002384
  • Gastroesophageal refluxHP:0002020
  • Generalized myoclonic seizureHP:0002123
  • Generalized non-motor (absence) seizureHP:0002121
  • KyphosisHP:0002808
  • Large handsHP:0001176
  • MacrocephalyHP:0000256
  • Moderate intellectual disabilityHP:0002342
  • Patent ductus arteriosusHP:0001643
  • Pedal edemaHP:0010741
  • Pes planusHP:0001763
  • Poor coordinationHP:0002370
  • Renal insufficiencyHP:0000083
  • Severe intellectual disabilityHP:0010864
  • TremorHP:0001337
  • Ventricular septal defectHP:0001629
  • VentriculomegalyHP:0002119
  • Vesicoureteral refluxHP:0000076

Very rare (<4-1%)(46)

  • 2-3 toe syndactylyHP:0004691
  • Abnormal vertebral morphologyHP:0003468
  • Acute lymphoblastic leukemiaHP:0006721
  • Aganglionic megacolonHP:0002251
  • Agenesis of permanent teethHP:0006349
  • Ankle flexion contractureHP:0006466
  • AstrocytomaHP:0009592
  • Attention deficit hyperactivity disorderHP:0007018
  • Bilateral camptodactylyHP:0005617
  • CataractHP:0000518
  • CholesteatomaHP:0009797
  • Conductive hearing impairmentHP:0000405
  • Congenital posterior urethral valveHP:0010957
  • CraniosynostosisHP:0001363
  • CryptorchidismHP:0000028
  • Decreased fertilityHP:0000144
  • Delayed eruption of permanent teethHP:0000696
  • HemangiomaHP:0001028
  • Hip contractureHP:0003273
  • Hydrocele testisHP:0000034
  • HydronephrosisHP:0000126
  • HypercalcemiaHP:0003072
  • HypermetropiaHP:0000540
  • Hyperpigmentation of the skinHP:0000953
  • HypodontiaHP:0000668
  • Hypopigmentation of the skinHP:0001010
  • HypospadiasHP:0000047
  • HypothyroidismHP:0000821
  • Inguinal herniaHP:0000023
  • MyopiaHP:0000545
  • Neonatal hypoglycemiaHP:0001998
  • NeoplasmHP:0002664
  • NeuroblastomaHP:0003006
  • NystagmusHP:0000639
  • Pectus excavatumHP:0000767
  • PhimosisHP:0001741
  • Pulmonary blebHP:0032447
  • Renal agenesisHP:0000104
  • Sacrococcygeal teratomaHP:0030736
  • Small cell lung carcinomaHP:0030357
  • Small nailHP:0001792
  • StrabismusHP:0000486
  • Talipes equinovarusHP:0001762
  • Umbilical herniaHP:0001537
  • Ureteral duplicationHP:0000073
  • Ureteropelvic junction obstructionHP:0000074