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Occipital horn syndrome

ORPHA:198 · Disease · Disorder

HPO 表現型（共 70 項）

Very frequent (99-80%)(11)

  • Abnormal skull morphologyHP:0000929
  • Abnormality of the faceHP:0000271
  • Cerebral calcificationHP:0002514
  • Delayed cranial suture closureHP:0000270
  • ExostosesHP:0100777
  • Global developmental delayHP:0001263
  • Hyperextensible skinHP:0000974
  • Intellectual disabilityHP:0001249
  • Joint hypermobilityHP:0001382
  • Large fontanellesHP:0000239
  • Specific learning disabilityHP:0001328

Frequent (79-30%)(32)

  • Abnormal esophagus physiologyHP:0025270
  • Abnormality of the sense of smellHP:0004408
  • Abnormality of the wristHP:0003019
  • Atypical scarring of skinHP:0000987
  • BrachydactylyHP:0001156
  • Bruising susceptibilityHP:0000978
  • CholestasisHP:0001396
  • DysphagiaHP:0002015
  • EsophagitisHP:0100633
  • Gastroesophageal refluxHP:0002020
  • GastroparesisHP:0002578
  • HepatitisHP:0012115
  • Hiatus herniaHP:0002036
  • High, narrow palateHP:0002705
  • HypothermiaHP:0002045
  • HypotoniaHP:0001252
  • JaundiceHP:0000952
  • KeloidsHP:0010562
  • Long philtrumHP:0000343
  • OsteomalaciaHP:0002749
  • OsteopeniaHP:0000938
  • OsteoporosisHP:0000939
  • Pectus carinatumHP:0000768
  • Pectus excavatumHP:0000767
  • PlatyspondylyHP:0000926
  • Poor suckHP:0002033
  • RicketsHP:0002748
  • ScarringHP:0100699
  • Short palmHP:0004279
  • Synostosis of jointsHP:0100240
  • Vascular dilatationHP:0002617
  • Venous insufficiencyHP:0005293

Occasional (29-5%)(27)

  • Abnormal fibula morphologyHP:0002991
  • Abnormal pubic bone morphologyHP:0003172
  • Absent tibiaHP:0009556
  • Aplasia/hypoplasia of the humerusHP:0006507
  • Aplastic clavicleHP:0006660
  • Avascular necrosis of the capital femoral epiphysisHP:0005743
  • Bladder diverticulumHP:0000015
  • Coarse hairHP:0002208
  • Coxa valgaHP:0002673
  • Coxa varaHP:0002812
  • Down-sloping shouldersHP:0200021
  • Downslanted palpebral fissuresHP:0000494
  • Femoral herniaHP:0100541
  • Genu valgumHP:0002857
  • High foreheadHP:0000348
  • Hip dislocationHP:0002827
  • Hip dysplasiaHP:0001385
  • Humerus varusHP:0003874
  • Inguinal herniaHP:0000023
  • KyphosisHP:0002808
  • Large iliac wingHP:0008818
  • Narrow chestHP:0000774
  • OsteolysisHP:0002797
  • Pes planusHP:0001763
  • Recurrent urinary tract infectionsHP:0000010
  • ScoliosisHP:0002650
  • Thick hairHP:0100874