Branchio-oto-renal syndrome

Revision as of 14:58, 28 September 2012 by Prashanthsaddala (talk | contribs)
Jump to navigation Jump to search
Branchio-oto-renal syndrome
OMIM 113650
DiseasesDB 32599
MeSH D019280

WikiDoc Resources for Branchio-oto-renal syndrome

Articles

Most recent articles on Branchio-oto-renal syndrome

Most cited articles on Branchio-oto-renal syndrome

Review articles on Branchio-oto-renal syndrome

Articles on Branchio-oto-renal syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Branchio-oto-renal syndrome

Images of Branchio-oto-renal syndrome

Photos of Branchio-oto-renal syndrome

Podcasts & MP3s on Branchio-oto-renal syndrome

Videos on Branchio-oto-renal syndrome

Evidence Based Medicine

Cochrane Collaboration on Branchio-oto-renal syndrome

Bandolier on Branchio-oto-renal syndrome

TRIP on Branchio-oto-renal syndrome

Clinical Trials

Ongoing Trials on Branchio-oto-renal syndrome at Clinical Trials.gov

Trial results on Branchio-oto-renal syndrome

Clinical Trials on Branchio-oto-renal syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Branchio-oto-renal syndrome

NICE Guidance on Branchio-oto-renal syndrome

NHS PRODIGY Guidance

FDA on Branchio-oto-renal syndrome

CDC on Branchio-oto-renal syndrome

Books

Books on Branchio-oto-renal syndrome

News

Branchio-oto-renal syndrome in the news

Be alerted to news on Branchio-oto-renal syndrome

News trends on Branchio-oto-renal syndrome

Commentary

Blogs on Branchio-oto-renal syndrome

Definitions

Definitions of Branchio-oto-renal syndrome

Patient Resources / Community

Patient resources on Branchio-oto-renal syndrome

Discussion groups on Branchio-oto-renal syndrome

Patient Handouts on Branchio-oto-renal syndrome

Directions to Hospitals Treating Branchio-oto-renal syndrome

Risk calculators and risk factors for Branchio-oto-renal syndrome

Healthcare Provider Resources

Symptoms of Branchio-oto-renal syndrome

Causes & Risk Factors for Branchio-oto-renal syndrome

Diagnostic studies for Branchio-oto-renal syndrome

Treatment of Branchio-oto-renal syndrome

Continuing Medical Education (CME)

CME Programs on Branchio-oto-renal syndrome

International

Branchio-oto-renal syndrome en Espanol

Branchio-oto-renal syndrome en Francais

Business

Branchio-oto-renal syndrome in the Marketplace

Patents on Branchio-oto-renal syndrome

Experimental / Informatics

List of terms related to Branchio-oto-renal syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Branchio-oto-renal syndrome (also known as branciootorenal syndrome, BOR syndrome or BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck.

Pathophysiology

Branchio-oto-renal syndrome has an autosomal dominant pattern of inheritance.

BOR results from the mutation of the EYA1 gene.[1] [2]

Diagnosis

History and Symptoms

Individiduals with BOR may have underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.

Ear anomalies include extra openings in front of the ears (preauricular pits), extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible. Individuals can have mild to profound hearing loss, which can either be sensorineural, conductive, or mixed. People with BOR may also have cysts or fistulae along the sides of their neck corresponding to the location of the embryologic brancial clefts.

References

Template:Phakomatoses and other congenital malformations not elsewhere classified

Template:WH Template:WS