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Hallermann-Streiff syndrome

ORPHA:2108 · Malformation syndrome · Disorder

HPO 表現型（共 50 項）

Very frequent (99-80%)(14)

  • Abnormality of the dentitionHP:0000164
  • AlopeciaHP:0001596
  • BrachycephalyHP:0000248
  • Convex nasal ridgeHP:0000444
  • Dermal atrophyHP:0004334
  • Developmental cataractHP:0000519
  • Frontal bossingHP:0002007
  • MicrophthalmiaHP:0000568
  • Proportionate short statureHP:0003508
  • Reduced bone mineral densityHP:0004349
  • Rib exostosesHP:0000896
  • Short ribsHP:0000773
  • Sparse body hairHP:0002231
  • Sparse hairHP:0008070

Frequent (79-30%)(16)

  • Abnormal cranial suture/fontanelle morphologyHP:0000235
  • Abnormality of hair textureHP:0010719
  • Abnormality of the tongueHP:0000157
  • GlossoptosisHP:0000162
  • High, narrow palateHP:0002705
  • Malar flatteningHP:0000272
  • MicrognathiaHP:0000347
  • Narrow mouthHP:0000160
  • Natal toothHP:0000695
  • Recurrent fracturesHP:0002757
  • Sparse eyebrowHP:0045075
  • Sparse eyelashesHP:0000653
  • Supernumerary toothHP:0011069
  • TelecanthusHP:0000506
  • Underdeveloped nasal alaeHP:0000430
  • Visual impairmentHP:0000505

Occasional (29-5%)(20)

  • Abdominal situs inversusHP:0003363
  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal skull morphologyHP:0000929
  • Cerebellar hypoplasiaHP:0001321
  • Choanal atresiaHP:0000453
  • Clinodactyly of the 5th fingerHP:0004209
  • Congestive heart failureHP:0001635
  • CryptorchidismHP:0000028
  • GlaucomaHP:0000501
  • HypothyroidismHP:0000821
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • Respiratory insufficiencyHP:0002093
  • Short footHP:0001773
  • Small handHP:0200055
  • StrabismusHP:0000486
  • TracheomalaciaHP:0002779
  • UveitisHP:0000554