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Updated: Dec 17 2021

[Blocked from Release] Hereditary Deafness Disorders

  • Alport's Syndrome
    • Most common form of hereditary nephritidis
    • Patients develop glomerulonephritis that progresses to renal failure
    • Some patients develop hearing loss
    • 10% have eye abnormalities such as cataracts
  • Leopard Syndrome
    • Autosomal dominant
    • Presenation
      • lentigines
      • EKG abnormalities
      • ocular hypertelorism
      • pulmonary stenosis
      • abnormal genitalia
      • growth retardation
      • sensorineural deafness
  • Pendred's Syndrome
    • Autosomal recessive
    • Presentation
      • deafness and goiter
      • the goiter appears at puberty and most patients are euthyroid
  • Waardenburg's Syndrome
    • Autosomal dominant
    • Presentation
      • white forelock
      • pathches of hypopigmentation
      • sensorineural hearing loss
      • lateral displacement of the inner canthi
      • sometimes concurrent with Hirschsprung disease
  • Usher's Syndrome
    • Presentation
      • deafness
      • mental retardation
      • seizures
      • retinitis pigmentosa
      • cataracts
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