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What is Melnick-Fraser syndrome?

What is Melnick-Fraser syndrome?

  • 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.
  • Melnick-Fraser syndrome: 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)

Melnick-Fraser syndrome: Introduction

Types of Melnick-Fraser syndrome:

Broader types of Melnick-Fraser syndrome:

How serious is Melnick-Fraser syndrome?

Complications of Melnick-Fraser syndrome: see complications of Melnick-Fraser syndrome

What causes Melnick-Fraser syndrome?

Causes of Melnick-Fraser syndrome: see causes of Melnick-Fraser syndrome

What are the symptoms of Melnick-Fraser syndrome?

Symptoms of Melnick-Fraser syndrome: see symptoms of Melnick-Fraser syndrome

Complications of Melnick-Fraser syndrome: see complications of Melnick-Fraser syndrome

Melnick-Fraser syndrome: Testing

Diagnostic testing: see tests for Melnick-Fraser syndrome.

Misdiagnosis: see misdiagnosis and Melnick-Fraser syndrome.

How is it treated?

Doctors and Medical Specialists for Melnick-Fraser syndrome: Medical Geneticist ; see also doctors and medical specialists for Melnick-Fraser syndrome.
Treatments for Melnick-Fraser syndrome: see treatments for Melnick-Fraser syndrome
Research for Melnick-Fraser syndrome: see research for Melnick-Fraser syndrome

Name and Aliases of Melnick-Fraser syndrome

Main name of condition: Melnick-Fraser syndrome

Other names or spellings for Melnick-Fraser syndrome:

branchio-oto-renal (BOR) syndrome, branchio-oto-renal (BOR) syndrome, type 1, Branchiootorenal syndrome 1, branchiootorenal dysplasia, BOR1

BOR syndrome, Branchio-oto-renal syndrome, Branchiootorenal dysplasia Source - Diseases Database

Branchiootorenal syndrome, BOR syndrome, Branchiootorenal dysplasia
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Melnick-Fraser syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Melnick-Fraser syndrome:

 

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