← 返回搜尋

Rubinstein-Taybi syndrome

ORPHA:783 · Malformation syndrome · Disorder

HPO 表現型（共 66 項）

Very frequent (99-80%)(17)

  • BrachydactylyHP:0001156
  • Broad hallux phalanxHP:0010059
  • Broad thumbHP:0011304
  • Convex nasal ridgeHP:0000444
  • Delayed speech and language developmentHP:0000750
  • Downslanted palpebral fissuresHP:0000494
  • Failure to thrive in infancyHP:0001531
  • Feeding difficulties in infancyHP:0008872
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • HypertelorismHP:0000316
  • Intellectual disabilityHP:0001249
  • Joint hypermobilityHP:0001382
  • Low-set earsHP:0000369
  • Short statureHP:0004322
  • Talon cuspHP:0011087
  • TelecanthusHP:0000506

Frequent (79-30%)(34)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal corpus callosum morphologyHP:0001273
  • Abnormal distal phalanx morphology of fingerHP:0009832
  • Abnormal heart morphologyHP:0001627
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the genitourinary systemHP:0000119
  • Absent pubertal growth spurtHP:0031087
  • AnxietyHP:0000739
  • Aplasia/Hypoplasia of the cerebellar vermisHP:0006817
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • Autistic behaviorHP:0000729
  • Carious teethHP:0000670
  • CataractHP:0000518
  • Clinodactyly of the 5th fingerHP:0004209
  • Clubbing of toesHP:0100760
  • ColobomaHP:0000589
  • ConstipationHP:0002019
  • CryptorchidismHP:0000028
  • EpicanthusHP:0000286
  • Generalized hirsutismHP:0002230
  • GlaucomaHP:0000501
  • Highly arched eyebrowHP:0002553
  • IrritabilityHP:0000737
  • MicrocephalyHP:0000252
  • MicrognathiaHP:0000347
  • Nasolacrimal duct obstructionHP:0000579
  • PilomatrixomaHP:0030434
  • Recurrent infectionsHP:0002719
  • Respiratory distressHP:0002098
  • Respiratory insufficiencyHP:0002093
  • Sleep apneaHP:0010535
  • StrabismusHP:0000486
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(15)

  • Abnormal pulmonary interstitial morphologyHP:0006530
  • Atrial septal defectHP:0001631
  • Atypical scarring of skinHP:0000987
  • Avascular necrosis of the capital femoral epiphysisHP:0005743
  • Capillary hemangiomaHP:0005306
  • Chiari malformationHP:0002308
  • Dental crowdingHP:0000678
  • Finger syndactylyHP:0006101
  • Hearing impairmentHP:0000365
  • Hip dysplasiaHP:0001385
  • KeloidsHP:0010562
  • ObesityHP:0001513
  • PolyhydramniosHP:0001561
  • PtosisHP:0000508
  • SeizureHP:0001250