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Aarskog-Scott syndrome

ORPHA:915 · Malformation syndrome · Disorder

HPO 表現型（共 49 項）

Very frequent (99-80%)(11)

  • Broad footHP:0001769
  • Broad palmHP:0001169
  • Camptodactyly of fingerHP:0100490
  • Everted lower lip vermilionHP:0000232
  • HypertelorismHP:0000316
  • Shawl scrotumHP:0000049
  • Short footHP:0001773
  • Short palmHP:0004279
  • Short statureHP:0004322
  • Small handHP:0200055
  • Umbilical herniaHP:0001537

Frequent (79-30%)(16)

  • Abnormal pinna morphologyHP:0000377
  • Anteverted naresHP:0000463
  • Broad foreheadHP:0000337
  • Clinodactyly of the 5th fingerHP:0004209
  • Cognitive impairmentHP:0100543
  • CryptorchidismHP:0000028
  • Downslanted palpebral fissuresHP:0000494
  • Finger syndactylyHP:0006101
  • High anterior hairlineHP:0009890
  • Hyperextensible skinHP:0000974
  • Inguinal herniaHP:0000023
  • Joint hypermobilityHP:0001382
  • Long philtrumHP:0000343
  • Posteriorly rotated earsHP:0000358
  • PtosisHP:0000508
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(22)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal vertebral segmentation and fusionHP:0005640
  • Abnormality of the cervical spineHP:0003319
  • Abnormality of the dentitionHP:0000164
  • Attention deficit hyperactivity disorderHP:0007018
  • Atypical behaviorHP:0000708
  • Cleft palateHP:0000175
  • Cleft upper lipHP:0000204
  • Congestive heart failureHP:0001635
  • Delayed eruption of teethHP:0000684
  • EpicanthusHP:0000286
  • Genu recurvatumHP:0002816
  • Hypoplasia of the maxillaHP:0000327
  • MegalocorneaHP:0000485
  • Orofacial cleftHP:0000202
  • Pectus excavatumHP:0000767
  • Pes planusHP:0001763
  • Round faceHP:0000311
  • Short neckHP:0000470
  • Single transverse palmar creaseHP:0000954
  • StrabismusHP:0000486
  • TalipesHP:0001883