Disorders & Syndromes
 

Disorders and syndromes which cause hearing loss.
  
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This list is by no means inclusive.  I have described the disorders to the best of my knowledge.    These statements should not be meant as the absolute final word.  Always discuss any issues, concerns, or questions you have with your doctor.  (this page still under construction)

Info on Genetics  •  Alport Syndrome  •  Auditory Neuropathy  •  Auditory Processing Disorders  •  CHARGE Syndrome  •  Connexion 26  •  Congenital Ear Problems  •  Large Vestibular Aqueduct
Long QT Syndrome  •  Pendred Syndrome  •

General Information

Information on Genetics

  • HHH syndromic  Contains information on Alport
    Syndrome, Branchio-Oto-Renal Syndrome, Jervell and Lange-Nielsen, Mitochondrial
    Syndromes, Norrie Diseas, Pendred
    Syndrome, Stickler, Treacher Collins, Usher, and Waardenburg Syndromes.
  • HHH index  Hereditary Hearing Loss Homepage.  A very good one, has links to many of the above syndromes with outstanding
    information.
  • Search OMIM -- Online Mendelian Inheritance in Man

Alport Syndrome--Hearing loss associated with a kidney disorder.

Auditory Neuropathy--Term used to describe a problem with the auditory nerves.  These nerves carry sound to the brain.

Auditory Processing Disorder--The mechanisms of hearing are intact, but the brain is unable to make sense of the sounds it is hearing.

CHARGE Syndrome--CHARGE Syndrome refers to children with a specific set of birth defects. "CHARGE" originally came from the first letter of some of the most common features seen in these children: C = coloboma, H = heart defects, A = atresia of the choanae, R = retardation of growth and development, G = genital and urinary abnormalities, E = ear abnormalities and/or hearing loss. The diagnosis of CHARGE is based on finding several of these and possibly other features in a child. The diagnosis should be made by a medical geneticist who has ruled out other disorders with overlapping findings

Connexion 26--genetic mutation that results in hearing loss.

Congenital Ear Problems (including cytomegolovirus)

Large Vestibular Aqueduct Syndrome (LVAS, EVA)--the vestibulae of some individuals can be enlarged, causing progressive and sometimes, fluctuating hearing losses.

Long QT Syndrome--Deafness that occurs with an irregular heart rhythm.

Pendred Syndrome--A progressive sensorineural hearing loss associated with thyroid dysfunction.  (Genetic, recessive.)  Majority of persons with Pendred have enlarged vestibular aqueducts which can cause fluctuations in hearing, and/or Mondini Malformation of the cochlea, (the cochlea does not make the standard 2 and 1/2 turns)


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Tuesday July 25, 2006