← 返回搜尋

Trisomy 8p syndrome

ORPHA:264450 · Malformation syndrome · Disorder

HPO 表現型（共 65 項）

Frequent (79-30%)(50)

  • Abnormal lung lobationHP:0002101
  • Agenesis of corpus callosumHP:0001274
  • Annular pancreasHP:0001734
  • Anteverted naresHP:0000463
  • Aplasia/Hypoplasia of the gallbladderHP:0011466
  • Aplasia/Hypoplasia of the tragusHP:0009913
  • AstigmatismHP:0000483
  • Bifid uvulaHP:0000193
  • Blue scleraeHP:0000592
  • BrachydactylyHP:0001156
  • Cleft palateHP:0000175
  • Clinodactyly of halluxHP:0040018
  • Clinodactyly of the 2nd fingerHP:0040022
  • Clinodactyly of the 4th toeHP:0011918
  • Clinodactyly of the 5th fingerHP:0004209
  • Clinodactyly of the 5th toeHP:0001864
  • Conductive hearing impairmentHP:0000405
  • ConstipationHP:0002019
  • CryptorchidismHP:0000028
  • Depressed nasal bridgeHP:0005280
  • Fetal pyelectasisHP:0010945
  • Generalized hypotoniaHP:0001290
  • Heart murmurHP:0030148
  • Heterochromia iridisHP:0001100
  • Hyperactive deep tendon reflexesHP:0006801
  • HypermetropiaHP:0000540
  • HypertelorismHP:0000316
  • Low posterior hairlineHP:0002162
  • Metopic suture patent to nasal rootHP:0005495
  • MicrocephalyHP:0000252
  • MicropenisHP:0000054
  • Multiple joint contracturesHP:0002828
  • NephrocalcinosisHP:0000121
  • Neurodevelopmental delayHP:0012758
  • Overlapping toeHP:0001845
  • Posteriorly rotated earsHP:0000358
  • Preauricular skin tagHP:0000384
  • Recurrent upper respiratory tract infectionsHP:0002788
  • RetrognathiaHP:0000278
  • Sacral dimpleHP:0000960
  • Severe intellectual disabilityHP:0010864
  • Short 1st metacarpalHP:0010034
  • Short fifth metatarsalHP:0004704
  • Short fourth metatarsalHP:0004689
  • Short neckHP:0000470
  • Short noseHP:0003196
  • Single transverse palmar creaseHP:0000954
  • StrabismusHP:0000486
  • Thin vermilion borderHP:0000233
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(15)

  • 3-4 finger cutaneous syndactylyHP:0011939
  • Abnormal atrioventricular connectionHP:0011546
  • Abnormal left ventricle morphologyHP:0001711
  • Abnormal middle ear morphologyHP:0008609
  • Dandy-Walker malformationHP:0001305
  • Decreased lacrimationHP:0000633
  • Dysplastic aortic valveHP:0005176
  • HerniaHP:0100790
  • HydrocephalusHP:0000238
  • HydronephrosisHP:0000126
  • Malrotation of small bowelHP:0004794
  • NeuroblastomaHP:0003006
  • Peripheral pulmonary artery stenosisHP:0004969
  • SeizureHP:0001250
  • Tetralogy of FallotHP:0001636