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McKusick-Kaufman syndrome

ORPHA:2473 · Malformation syndrome · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(1)

  • HydrometrocolposHP:0030010

Frequent (79-30%)(5)

  • CryptorchidismHP:0000028
  • Glanular hypospadiasHP:0000807
  • HydronephrosisHP:0000126
  • Postaxial hand polydactylyHP:0001162
  • Urogenital sinus anomalyHP:0100779

Occasional (29-5%)(21)

  • Abnormal metacarpal morphologyHP:0005916
  • Aganglionic megacolonHP:0002251
  • Anal atresiaHP:0002023
  • Atrial septal defectHP:0001631
  • BrachydactylyHP:0001156
  • Cleft palateHP:0000175
  • Ectopic anusHP:0004397
  • Failure to thriveHP:0001508
  • Finger syndactylyHP:0006101
  • Global developmental delayHP:0001263
  • High palateHP:0000218
  • Hypoplastic left ventricleHP:0004383
  • Intellectual disabilityHP:0001249
  • Multicystic kidney dysplasiaHP:0000003
  • Patent ductus arteriosusHP:0001643
  • Postaxial foot polydactylyHP:0001830
  • Short statureHP:0004322
  • Tarsal synostosisHP:0008368
  • Tetralogy of FallotHP:0001636
  • Urethral strictureHP:0012227
  • Ventricular septal defectHP:0001629

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

  • Renal hypoplasia/aplasiaHP:0008678