← 返回搜尋

Crisponi syndrome

ORPHA:1545 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(17)

  • Anteverted naresHP:0000463
  • Camptodactyly of fingerHP:0100490
  • Death in infancyHP:0001522
  • Feeding difficultiesHP:0011968
  • Flexion contractureHP:0001371
  • Full cheeksHP:0000293
  • HyperhidrosisHP:0000975
  • HypertoniaHP:0001276
  • HypohidrosisHP:0000966
  • KyphosisHP:0002808
  • Large faceHP:0100729
  • Long philtrumHP:0000343
  • Malignant hyperthermiaHP:0002047
  • Respiratory insufficiencyHP:0002093
  • ScoliosisHP:0002650
  • Sudden cardiac deathHP:0001645
  • Wide noseHP:0000445

Frequent (79-30%)(3)

  • Cognitive impairmentHP:0100543
  • High palateHP:0000218
  • Limitation of joint mobilityHP:0001376

Occasional (29-5%)(3)

  • MicrognathiaHP:0000347
  • Narrow mouthHP:0000160
  • SeizureHP:0001250