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Melnick-Fraser syndrome: A rare genetic disorder characterized by hearing loss and kidney malformations. Type 1 involves a defect on the EYA1 gene on chromosome 8q13.3. More detailed information about the symptoms, causes, and treatments of Melnick-Fraser syndrome is available below.
See full list of 17 symptoms of Melnick-Fraser syndrome
Read more about complications of Melnick-Fraser syndrome.
Research the causes of these diseases that are similar to, or related to, Melnick-Fraser syndrome:
Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
See full list of 7 occasional symptoms of Melnick-Fraser syndrome
Medical research articles related to Melnick-Fraser syndrome include:
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Visit our research pages for current research about Melnick-Fraser syndrome treatments.
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An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed) - (Source - Diseases Database)
Melnick-Fraser syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Melnick-Fraser syndrome, or a subtype of Melnick-Fraser syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
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