← 返回搜尋

Down syndrome

ORPHA:870 · Malformation syndrome · Disorder

HPO 表現型（共 72 項）

Very frequent (99-80%)(14)

  • BrachycephalyHP:0000248
  • BrachydactylyHP:0001156
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • Flat faceHP:0012368
  • HypotoniaHP:0001252
  • Increased total neutrophil countHP:0011897
  • Intellectual disabilityHP:0001249
  • Joint hypermobilityHP:0001382
  • Round earHP:0100830
  • Short neckHP:0000470
  • Specific learning disabilityHP:0001328
  • Thickened nuchal skin foldHP:0000474
  • Upslanted palpebral fissureHP:0000582

Frequent (79-30%)(32)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal cranial suture/fontanelle morphologyHP:0000235
  • Abnormality of blood and blood-forming tissuesHP:0001871
  • Abnormality of immune system physiologyHP:0010978
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the lymphatic systemHP:0100763
  • Alzheimer diseaseHP:0002511
  • Atrioventricular canal defectHP:0006695
  • Bilateral single transverse palmar creasesHP:0007598
  • Broad neckHP:0000475
  • Clinodactyly of the 5th fingerHP:0004209
  • Decreased fertilityHP:0000144
  • Depressed nasal ridgeHP:0000457
  • Developmental regressionHP:0002376
  • Downturned corners of mouthHP:0002714
  • Duodenal atresiaHP:0002247
  • MacroglossiaHP:0000158
  • MicrodontiaHP:0000691
  • Narrow mouthHP:0000160
  • Narrow palateHP:0000189
  • ObesityHP:0001513
  • Open mouthHP:0000194
  • PolycythemiaHP:0001901
  • Prematurely aged appearanceHP:0007495
  • Protruding tongueHP:0010808
  • Sandal gapHP:0001852
  • Short noseHP:0003196
  • Short statureHP:0004322
  • Thick lower lip vermilionHP:0000179
  • ThrombocytopeniaHP:0001873
  • Umbilical herniaHP:0001537
  • Ventricular septal defectHP:0001629

Occasional (29-5%)(25)

  • Acute megakaryocytic leukemiaHP:0006733
  • Aganglionic megacolonHP:0002251
  • AmblyopiaHP:0000646
  • Anal atresiaHP:0002023
  • Atlantoaxial dislocationHP:0003414
  • BlepharitisHP:0000498
  • CataractHP:0000518
  • Celiac diseaseHP:0002608
  • Chronic constipationHP:0012450
  • Conductive hearing impairmentHP:0000405
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • Gait disturbanceHP:0001288
  • Gastroesophageal refluxHP:0002020
  • Impaired pain sensationHP:0007328
  • KeratoconusHP:0000563
  • LeukemiaHP:0001909
  • MyopiaHP:0000545
  • Renal hypoplasia/aplasiaHP:0008678
  • Secundum atrial septal defectHP:0001684
  • SeizureHP:0001250
  • Sparse hairHP:0008070
  • StrabismusHP:0000486
  • Tetralogy of FallotHP:0001636
  • Type II diabetes mellitusHP:0005978

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

  • HyperthyroidismHP:0000836