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Multiple benign circumferential skin creases on limbs

ORPHA:2505 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(3)

  • EdemaHP:0000969
  • Increased number of skin foldsHP:0007522
  • Thickened skinHP:0001072

Frequent (79-30%)(2)

  • Cleft palateHP:0000175
  • Irregular hyperpigmentationHP:0007400

Occasional (29-5%)(25)

  • Abnormal pinna morphologyHP:0000377
  • Abnormal scrotum morphologyHP:0000045
  • Abnormality of the faceHP:0000271
  • Abnormality of the musculatureHP:0003011
  • Congestive heart failureHP:0001635
  • CryptorchidismHP:0000028
  • EpicanthusHP:0000286
  • Generalized hirsutismHP:0002230
  • Global developmental delayHP:0001263
  • HypospadiasHP:0000047
  • Inguinal herniaHP:0000023
  • Intellectual disabilityHP:0001249
  • Localized neuroblastomaHP:0006768
  • Long philtrumHP:0000343
  • Lower limb asymmetryHP:0100559
  • MicrocephalyHP:0000252
  • MicrocorneaHP:0000482
  • MicrognathiaHP:0000347
  • MicrophthalmiaHP:0000568
  • Posteriorly rotated earsHP:0000358
  • RetinopathyHP:0000488
  • Short statureHP:0004322
  • Small scrotumHP:0000046
  • Umbilical herniaHP:0001537
  • Upper limb asymmetryHP:0100560