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Branchiootic syndrome 3(BOS3)

MedGen UID:
333995
Concept ID:
C1842124
Disease or Syndrome
Synonyms: BO SYNDROME 3; BOS3; SIX1-Related Branchiootorenal Spectrum Disorders
 
Gene (location): SIX1 (14q23.1)
 
Monarch Initiative: MONDO:0012025
OMIM®: 608389

Disease characteristics

Excerpted from the GeneReview: Branchiootorenal Spectrum Disorder
Branchiootorenal spectrum disorder (BORSD) is characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment, branchial fistulae and cysts, and renal malformations ranging from mild renal hypoplasia to bilateral renal agenesis. Some individuals progress to end-stage renal disease (ESRD) later in life. Extreme variability can be observed in the presence, severity, and type of branchial arch, otologic, audiologic, and renal abnormality from right side to left side in an affected individual and also among individuals in the same family. [from GeneReviews]
Authors:
Richard JH Smith   view full author information

Additional description

From MedlinePlus Genetics
Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders).

"Branchio-" refers to the second branchial arch, which is a structure in the developing embryo that gives rise to tissues in the front and side of the neck. In people with BOR/BO syndrome, abnormal development of the second branchial arch can result in the formation of masses in the neck called branchial cleft cysts. Some affected people have abnormal holes or pits called fistulae in the side of the neck just above the collarbone. Fistulae can form tunnels into the neck, exiting in the mouth near the tonsil. Branchial cleft cysts and fistulae can cause health problems if they become infected, so they are often removed surgically.

"Oto-" and "-otic" refer to the ear; most people with BOR/BO syndrome have hearing loss and other ear abnormalities. The hearing loss can be sensorineural, meaning it is caused by abnormalities in the inner ear; conductive, meaning it results from changes in the small bones in the middle ear; or mixed, meaning it is caused by a combination of inner ear and middle ear abnormalities. Some affected people have tiny holes in the skin or extra bits of tissue just in front of the ear. These are called preauricular pits and preauricular tags, respectively.

"Renal" refers to the kidneys; BOR syndrome (but not BO syndrome) causes abnormalities of kidney structure and function. These abnormalities range from mild to severe and can affect one or both kidneys. In some cases, end-stage renal disease (ESRD) develops later in life. This serious condition occurs when the kidneys become unable to filter fluids and waste products from the body effectively.  https://medlineplus.gov/genetics/condition/branchiootorenal-branchiootic-syndrome

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Branchial cyst
MedGen UID:
2342
Concept ID:
C0006131
Congenital Abnormality
A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region.
Lacrimal duct stenosis
MedGen UID:
116054
Concept ID:
C0238300
Finding
Narrowing of a tear duct (lacrimal duct).
Preauricular pit
MedGen UID:
120587
Concept ID:
C0266610
Congenital Abnormality
Small indentation anterior to the insertion of the ear.
Commissural lip pits
MedGen UID:
98001
Concept ID:
C0399605
Finding
A depression located at an oral commissure.
Preauricular skin tag
MedGen UID:
395989
Concept ID:
C1860816
Finding
A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).

Term Hierarchy

Recent clinical studies

Etiology

Chen A, Song J, Acke FRE, Mei L, Cai X, Feng Y, He C
Clin Genet 2021 Jul;100(1):3-13. Epub 2021 Mar 21 doi: 10.1111/cge.13949. PMID: 33624842
Negrisolo S, Centi S, Benetti E, Ghirardo G, Della Vella M, Murer L, Artifoni L
J Nephrol 2014 Dec;27(6):667-71. Epub 2014 Jun 5 doi: 10.1007/s40620-014-0112-x. PMID: 24899122

Diagnosis

Yalcouyé A, Traoré O, Diarra S, Schrauwen I, Esoh K, Kadlubowska MK, Bharadwaj T, Adadey SM, Kéita M, Guinto CO, Leal SM, Landouré G, Wonkam A
Mol Genet Genomic Med 2022 Jul;10(7):e1995. Epub 2022 Jun 14 doi: 10.1002/mgg3.1995. PMID: 35698919Free PMC Article
Chen A, Song J, Acke FRE, Mei L, Cai X, Feng Y, He C
Clin Genet 2021 Jul;100(1):3-13. Epub 2021 Mar 21 doi: 10.1111/cge.13949. PMID: 33624842
Lin XF, Luo JW, Liu G, Zhu YB, Jin Z, Lin X
Mol Med Rep 2018 Nov;18(5):4271-4280. Epub 2018 Sep 5 doi: 10.3892/mmr.2018.9455. PMID: 30221713Free PMC Article
Negrisolo S, Centi S, Benetti E, Ghirardo G, Della Vella M, Murer L, Artifoni L
J Nephrol 2014 Dec;27(6):667-71. Epub 2014 Jun 5 doi: 10.1007/s40620-014-0112-x. PMID: 24899122

Clinical prediction guides

Chen A, Song J, Acke FRE, Mei L, Cai X, Feng Y, He C
Clin Genet 2021 Jul;100(1):3-13. Epub 2021 Mar 21 doi: 10.1111/cge.13949. PMID: 33624842
Lin XF, Luo JW, Liu G, Zhu YB, Jin Z, Lin X
Mol Med Rep 2018 Nov;18(5):4271-4280. Epub 2018 Sep 5 doi: 10.3892/mmr.2018.9455. PMID: 30221713Free PMC Article
Kause F, Reutter H, Marsch F, Thiele H, Altmüller J, Ludwig M, Zhang R
Mol Med Rep 2018 Feb;17(2):3200-3205. Epub 2017 Dec 6 doi: 10.3892/mmr.2017.8196. PMID: 29257230

Recent systematic reviews

Chen A, Song J, Acke FRE, Mei L, Cai X, Feng Y, He C
Clin Genet 2021 Jul;100(1):3-13. Epub 2021 Mar 21 doi: 10.1111/cge.13949. PMID: 33624842

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