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Hypochondroplasia

ORPHA:429 · Disease · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(6)

  • Abnormal vertebral body morphologyHP:0003312
  • BrachydactylyHP:0001156
  • Childhood onset short-limb short statureHP:0011405
  • MicromeliaHP:0002983
  • Short toeHP:0001831
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(6)

  • Abnormal femur morphologyHP:0002823
  • Abnormal metaphysis morphologyHP:0000944
  • Abnormal pelvic girdle bone morphologyHP:0002644
  • Abnormality of the elbowHP:0009811
  • Genu varumHP:0002970
  • Joint hypermobilityHP:0001382

Occasional (29-5%)(8)

  • Bowing of the long bonesHP:0006487
  • HyperlordosisHP:0003307
  • Intellectual disabilityHP:0001249
  • MacrocephalyHP:0000256
  • OsteoarthritisHP:0002758
  • ScoliosisHP:0002650
  • Sleep apneaHP:0010535
  • Spinal canal stenosisHP:0003416