← 返回搜尋

Waardenburg syndrome

ORPHA:3440 · Disease · Disorder

HPO 表現型（共 32 項）

Very frequent (99-80%)(9)

  • Abnormal facial shapeHP:0001999
  • Abnormal skin pigmentationHP:0001000
  • Hearing impairmentHP:0000365
  • Heterochromia iridisHP:0001100
  • Hypopigmentation of hairHP:0005599
  • Hypopigmented skin patchesHP:0001053
  • Premature graying of hairHP:0002216
  • Prominent nasal bridgeHP:0000426
  • SynophrysHP:0000664

Frequent (79-30%)(8)

  • Abnormal eyebrow morphologyHP:0000534
  • Abnormality of the eyeHP:0000478
  • Congenital sensorineural hearing impairmentHP:0008527
  • Sensorineural hearing impairmentHP:0000407
  • TelecanthusHP:0000506
  • Underdeveloped nasal alaeHP:0000430
  • White forelockHP:0002211
  • Wide nasal bridgeHP:0000431

Occasional (29-5%)(15)

  • Abnormality of the gastrointestinal tractHP:0011024
  • Aganglionic megacolonHP:0002251
  • Aplasia/Hypoplasia of the colonHP:0100811
  • Blue iridesHP:0000635
  • CamptodactylyHP:0012385
  • Elbow contractureHP:0034391
  • Intestinal obstructionHP:0005214
  • MyelomeningoceleHP:0002475
  • Orofacial cleftHP:0000202
  • Peripheral neuropathyHP:0009830
  • PtosisHP:0000508
  • Spina bifidaHP:0002414
  • VertigoHP:0002321
  • Vestibular areflexiaHP:0008568
  • White eyelashesHP:0002227