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Achondroplasia

ORPHA:15 · Disease · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(5)

  • Bowing of the legsHP:0002979
  • Disproportionate short statureHP:0003498
  • KyphosisHP:0002808
  • Limb undergrowthHP:0009826
  • Thoracolumbar kyphosisHP:0005619

Frequent (79-30%)(23)

  • Abnormal midface morphologyHP:0000309
  • Anteverted naresHP:0000463
  • BrachydactylyHP:0001156
  • Central sleep apneaHP:0010536
  • Cervical spinal canal stenosisHP:0008445
  • Depressed nasal bridgeHP:0005280
  • Floppy infantHP:0008947
  • Frontal bossingHP:0002007
  • Functional abnormality of the middle earHP:0011452
  • Hearing impairmentHP:0000365
  • Hip joint hypermobilityHP:0045087
  • Knee joint hypermobilityHP:0045086
  • Limited elbow extensionHP:0001377
  • Lumbar hyperlordosisHP:0002938
  • MacrocephalyHP:0000256
  • Obstructive sleep apneaHP:0002870
  • Parietal bossingHP:0000242
  • Short long boneHP:0003026
  • Short middle phalanx of fingerHP:0005819
  • Short nasal bridgeHP:0003194
  • Short proximal phalanx of fingerHP:0010241
  • Spinal canal stenosisHP:0003416
  • Trident handHP:0004060

Occasional (29-5%)(10)

  • Abnormal iliac wing morphologyHP:0011867
  • Acanthosis nigricansHP:0000956
  • Flat acetabular roofHP:0003180
  • HypoxemiaHP:0012418
  • Narrow greater sciatic notchHP:0003375
  • ObesityHP:0001513
  • Restrictive ventilatory defectHP:0002091
  • RhizomeliaHP:0008905
  • Thoracic hypoplasiaHP:0005257
  • Wide anterior fontanelHP:0000260

Very rare (<4-1%)(1)

  • HydrocephalusHP:0000238