Anderson-Warburg Syndrome

Anderson-Warburg Syndrome

Article
Ear, Nose, & Throat (ENT)
Brain & Nerve
+5
Contributed byMaulik P. Purohit MD MPHJun 12, 2020

The topic Anderson-Warburg Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Norrie Disease.

Quick Summary:

  • Norrie Disease is an X-linked inherited disorder characterized by significantly reduced vision and hearing (which may manifest as blindness and deafness), along with cognitive and/or behavioral problems in some individuals
  • Norrie Disease affects males almost exclusively and symptoms are generally apparent at birth. The risk factors include genetic abnormalities in the NDP gene that is typically observed, if there is a family history of the condition
  • The disorder is caused by an inherited genetic mutation affecting the NDP gene on the X-chromosome, which controls production of the protein ‘norrin’
  • The signs and symptoms may include retinal degeneration, eye opacity, increased eye pressure, underdeveloped iris, progressive hearing loss, cognitive developmental delays, behavioral problems, endocrine dysfunction, and even severe mental retardation
  • A diagnosis of Norrie Disease includes a thorough physical examination and evaluation of the patient’s medical history, and genetic tests for families and individuals suspected of carrying the defective gene
  • Complications include progressively worsening pain in the eye due to increased intraocular pressure, behavioral problems, aggressive behavior, cognitive regression, and decreased quality of life
  • The treatment for Norrie Disease includes eye surgery, use of hearing aids, special education, and counseling for families with a member affected by the condition
  • In many cases, the prognosis is good as individuals lead fulfilling lives, with adequate treatment. However, the prognosis also depends upon the severity of the symptoms of Norrie Disease

Please find comprehensive information on Norrie Disease regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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