Branchio-oto-renal syndrome: Difference between revisions
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==Overview== | |||
'''Branchio-oto-renal syndrome''' (also known as '''branciootorenal syndrome''', '''BOR syndrome''' or '''BOR''') is an [[autosomal dominant]] [[genetic disorder]] involving the [[kidney]]s, ears, and neck. | |||
==Pathophysiology== | |||
[[Image:autodominant.jpg|thumb|left|{{PAGENAME}} has an autosomal dominant pattern of inheritance.]] | |||
BOR results from the mutation of the [[EYA1 gene]].<ref>{{OMIM|113650}}</ref> <ref>[http://www.genetests.com/servlet/access?db=geneclinics&site=gt&id=8888891&key=QKsO4q7nnt6jd&gry=&fcn=y&fw=2fkb&filename=/profiles/bor/index.html Branchiootorenal syndrome from Gene Reviews]</ref> | |||
== | ==Diagnosis== | ||
===History and Symptoms=== | |||
Individiduals with BOR may have underdeveloped (hypoplastic) or [[Renal agenesis|absent]] kidneys with resultant renal insufficiency or [[renal failure]]. | Individiduals with BOR may have underdeveloped (hypoplastic) or [[Renal agenesis|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 [[Acrochordon|tags]]), or further malformation or absence of the outer ear ([[pinna (anatomy)|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 [[fistula]]e along the sides of their neck corresponding to | Ear anomalies include extra openings in front of the ears (preauricular pits), extra pieces of skin in front of the ears (preauricular [[Acrochordon|tags]]), or further malformation or absence of the outer ear ([[pinna (anatomy)|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 [[fistula]]e along the sides of their neck corresponding to | ||
the location of the embryologic [[Branchial arch|brancial cleft]]s. | the location of the embryologic [[Branchial arch|brancial cleft]]s. | ||
==References== | ==References== | ||
Revision as of 14:57, 28 September 2012
| Branchio-oto-renal syndrome | |
| OMIM | 113650 |
|---|---|
| DiseasesDB | 32599 |
| MeSH | D019280 |
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
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