Branchio oto renal syndrome. Medical search. Frequent questions

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchiogenic malformation, hearing loss and renal anomalies. (nih.gov)
Branchio-oto-renal syndrome is a genetic condition that causes tissue anomalies in the ears, neck, and kidneys. (medicalnewstoday.com)
In about half of all cases of bilateral renal agenesis there are other structural anomalies (e.g. urogenital, cardiac, skeletal, central nervous system) or syndromes (chromosomal or genetic). (cdc.gov)
Look for major anomalies and minor anomalies - renal agenesis is seen in hundreds of genetic conditions, including common trisomies, deletion 22q11, Melnick-Fraser syndrome, Fraser cryptophthalmos syndrome, and branchio-oto-renal syndrome. (cdc.gov)
Determine related anomalies in bilateral renal agenesis (Potter sequence: abnormal facies, talipes [clubfoot] and other contractures, pulmonary hypoplasia). (cdc.gov)
Distinguish renal agenesis from other kidney anomalies (multicystic dysplasia and polycystic renal disease). (cdc.gov)
Other anomalies of urinary tract (renal) or genital organs. (cdc.gov)
Branchio-oto-renal syndrome Hearing loss, branchial arch defects, renal anomalies. (brainkart.com)
Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). (mendelian.co)
Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. (mendelian.co)
This and other congenital ear malformations are sometimes associated with renal anomalies such as branchio-oto-renal syndrome. (edu.ng)
Microduplication of 8q12, encompassing the CHD7 gene, which is mutated or deleted in CHARGE syndrome, has recently been identified to result in a novel multiple congenital anomalies syndrome. (biomedcentral.com)
Patients with these anomalies should be evaluated for hearing loss and for other congenital anomalies (eg, kidney anomalies with ear pits in branchio-oto-renal syndrome). (msdmanuals.com)
The rate of kidney anomalies is increased in people with ear pits, so renal ultrasonography should be considered. (msdmanuals.com)

The cause of branchio-oto-renal syndrome are mutations in genes, EYA1, SIX1, and SIX5 (approximately 40 percent of those born with this condition have a mutation in the EYA1 gene). (wikipedia.org)
Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1, and SIX5, but the causative genes for approximately half of all BOR patients remain unknown. (nih.gov)
Mutations in three genes, EYA1 , SIX1 , and SIX5 , have been reported in people with BOR/BO syndrome. (medlineplus.gov)
At least nine mutations in the SIX1 gene have been identified in people with branchiootorenal (BOR) syndrome, a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. (encyclopedia.pub)
A few SIX1 gene mutations have also been found to cause branchiootic (BO) syndrome, which includes many of the same features as BOR syndrome except for kidney (renal) malformations. (encyclopedia.pub)
In some cases, the same SIX1 gene mutation causes BOR syndrome in some members of a family and BO syndrome in others. (encyclopedia.pub)
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: arecurrent missense mutation associated with BOR. (encyclopedia.pub)

Renal hypoplasia is a congenitally small kidney without dysplasia and can be bilateral or unilateral (see Fig. 33 ). (cdc.gov)
Renal agenesis or hypoplasia is conclusively diagnosed only through direct assessment by abdominal ultrasound, CT or MRI scan, surgery, or autopsy. (cdc.gov)
Bilateral renal hypoplasia might or might not be recognized after delivery, depending on the severity and degree of residual kidney function. (cdc.gov)
Unilateral renal agenesis or hypoplasia may be clinically silent at delivery if the contralateral kidney is functional, such that the diagnosis may occur months or years after birth (if at all). (cdc.gov)
Agenesis and/or hypoplasia (unilateral renal agenesis with contralateral renal hypoplasia). (cdc.gov)
A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. (bvsalud.org)

Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. (medlineplus.gov)
Noonan syndrome ( NS ) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. (handwiki.org)

Renal agenesis is a complete absence of one (unilateral) or both (bilateral) kidneys, whereas in renal aplasia the kidney has failed to develop beyond its most primitive form. (cdc.gov)
In practice, renal agenesis and renal aplasia might be indistinguishable. (cdc.gov)
Renal agenesis can be diagnosed or strongly suspected prenatally by ultrasound but should always be confirmed postnatally. (cdc.gov)
Bilateral renal agenesis should be considered in an infant with features of Potter sequence. (cdc.gov)
Bilateral renal agenesis is a lethal condition - the fetus may be stillborn or die shortly after delivery. (cdc.gov)
renal problems include agenesis, ectopy, or obstruction. (brainkart.com)

Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. (medlineplus.gov)
most people with BOR/BO syndrome have hearing loss and other ear abnormalities. (medlineplus.gov)
BOR syndrome (but not BO syndrome) causes abnormalities of kidney structure and function. (medlineplus.gov)
and a syndrome that includes preauricular sinuses, conductive deafness, commissural lip pits, and external ear abnormalities. (medscape.com)
Many renal abnormalities are inherited. (brainkart.com)
It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (harvard.edu)
Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. (sdsu.edu)
and renal and other abnormalities. (ouhsc.edu)
This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY. (rush.edu)
Abnormalities in the limbs and extremities may occur in Noonan syndrome. (handwiki.org)

SIX5 gene mutations have been found in a small number of people with BOR syndrome, although researchers question whether mutations in this gene cause the condition. (medlineplus.gov)
Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome. (childrensmercy.org)
A number of genetic mutations can result in Noonan syndrome. (handwiki.org)

The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders). (medlineplus.gov)

The signs and symptoms of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant chronic kidney disease or kidney failure. (wikipedia.org)
The major signs and symptoms of BOR/BO syndrome result from abnormal development of the second branchial arch, the ears, and (in BOR syndrome) the kidneys. (encyclopedia.pub)
Skin signs and symptoms in Noonan syndrome include lymphedema (lymph swelling of the extremities), keloid formation, excessive scar formation, hyperkeratosis (overdevelopment of outer skin layer), pigmented nevi (darkly pigmented skin spots), and connective tissue disease. (handwiki.org)

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. (medlineplus.gov)
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. (medlineplus.gov)

It is also known as Melnick-Fraser syndrome. (wikipedia.org)

Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. (wikipedia.org)
The genetics of branchio-oto-renal syndrome indicate it is inherited in an autosomal dominant manner with variable clinical manifestations affecting branchial, renal, and auditory development. (wikipedia.org)
BOR/BO syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. (medlineplus.gov)
A novel autosomal dominant syndrome consisting of hypertelorism, punctal pits, preauricular sinus, and deafness (HPPD) located on 14q31 has been noted. (medscape.com)

Waardenburg syndrome. (healthincode.com)
Waardenburg syndrome: 1-9 /100,000 (ORPHA:3440). (healthincode.com)

Jervell and Lange-Nielsen syndrome. (healthincode.com)
Jervell and Lange-Nielsen syndrome: 1-9 /1,000,000 (ORPHA:90647). (healthincode.com)

Be sure not to confuse this condition with multicystic dysplastic kidney or multicystic renal dysplasia. (cdc.gov)

The epidemiology of branchio-oto-renal syndrome has it with a prevalence of 1/40,000 in Western countries. (wikipedia.org)
The prevalence of BOR syndrome is 1/40,000 in Western countries, and nationwide surveillance in 2009-2010 identified approximately 250 BOR patients in Japan. (nih.gov)

medical citation needed] Diagnosis of BO syndrome or BOR syndrome is clinical, i.e. based on observing an appropriate combination of symptoms. (wikipedia.org)
This review article discusses the epidemiology, clinical symptoms, genetic background and management of BOR syndrome. (nih.gov)
More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. (elsevierpure.com)

Beckwith-Wiedemann syndrome is an overgrowth syndrome that affects many parts of the body. (medicalnewstoday.com)
Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. (childrensmercy.org)

Commonest inherited renal disease (1/400 to 1/1000), which usually only manifests in adult life, but cysts can be seen on US scan in children. (brainkart.com)
Multi-organ involvement (intracranial aneurysms, liver and pancreatic cysts, mitral valve prolapse), abdominal mass, haematuria, pain (rare presentation in neonatal period with abdom-inal masses and/or high or low BP, renal impairment). (brainkart.com)
Although cysts only occur in 5% of the tubules in the kidney, the enormous growth of these cysts ultimately leads to the loss of normal surrounding tissues and loss of renal function. (basicmedicalkey.com)

These genetic entities can exclusively cause deafness or be part of syndromes with other non-auditory alterations. (healthincode.com)
The development of the ears and auditory system may be affected in people with Noonan's syndrome. (handwiki.org)

Usher syndrome (types 1, 2, 3). (healthincode.com)
Usher syndrome: ORPHA: 1/30,000 (ORPHA:886). (healthincode.com)
For example, children with Usher syndrome may initially be thought to have non-syndromic hearing loss but, as the associated retinitis pigmentosa becomes apparent with age, the syndromic diagnosis becomes apparent. (medicalhomeportal.org)

22q11 Deletion Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. (harvard.edu)
This graph shows the total number of publications written about "22q11 Deletion Syndrome" by people in Harvard Catalyst Profiles by year, and whether "22q11 Deletion Syndrome" was a major or minor topic of these publication. (harvard.edu)
Below are the most recent publications written about "22q11 Deletion Syndrome" by people in Profiles. (harvard.edu)
Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome. (harvard.edu)

In some cases, end-stage renal disease (ESRD) develops later in life. (medlineplus.gov)
1 2 This poses a significant global disease burden as the risk for end stage renal disease (ESRD), cardiovascular morbidity, and mortality increases with declining glomerular filtration rate (GFR), 3 the most commonly used measure of kidney function. (bioseek.eu)

Gene content analysis of the duplicated region and review of the literature suggest that gain-of-dosage of the CHD7 gene may be a good candidate for the main clinical features of the syndrome. (biomedcentral.com)
Here we report on a further child who carries a de novo 4.2 Mb duplication of the region 8q12.1-q12.3 presenting with developmental delay, dysmorphic features, and type 3 Duane anomaly in order to refine the clinical presentation of the 8q12 microduplication syndrome and to contribute to genotype-phenotype correlation. (biomedcentral.com)
Introduction: Deletion syndromes are rare events in clinical practice. (bvsalud.org)

Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (harvard.edu)
Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome. (harvard.edu)

renal anomaly. (nih.gov)

Gorlin RJToriello HVCohen MM Hereditary Hearing Loss and Its Syndromes . (jamanetwork.com)

The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. (lookformedical.com)

Hemifacial microsomia syndrome can include preauricular sinuses, facial nerve palsy, sensorineural hearing loss, microtia or anotia, cervical appendages containing cartilage, and other defects. (medscape.com)
Duane retraction syndrome (DRS) is a highly heterogeneous eye-movement disorder that in a quarter to half of cases is associated with additional congenital defects and/or genetic syndromes [ 5 ]. (biomedcentral.com)

Genetic or chromosomal testing if syndrome suspected. (cdc.gov)

Some people with BOR/BO syndrome do not have an identified mutation in any of the genes listed above. (medlineplus.gov)
Heathcote KSyrris PCarter NDPatton MA A connexin-26 mutation causes a syndrome of sensorineural hearing loss in palmoplantar hyperkeratosis. (jamanetwork.com)

Genetic hearing loss may appear as an isolated finding or as part of a syndrome. (medscape.com)

Abnormal features of Noonan syndrome at the age of 3 months: Note the eyebrow slant and left-side eyelid dropping. (handwiki.org)
Abnormal features of Noonan syndrome at the age of 3 months: Note the low-set, posteriorly rotated, and abnormally formed ear. (handwiki.org)

This usually presents at an earlier age than ADPKD and progresses to renal failure in a shorter time. (brainkart.com)

Although more cases are needed to delineate the full-blown phenotype of 8q12 duplication syndrome, published data and present observations suggest that it results in a clinically recognizable phenotype. (biomedcentral.com)

In addition, variable developmental problems and schizoid features are also associated with this syndrome. (harvard.edu)
This abnormality is associated with a number of genetic syndromes and often with developmental delays. (msdmanuals.com)

The disease may then be termed "branchio-oto syndrome" (BO syndrome). (wikipedia.org)

Anatomy7

Organisms11

Diseases12

Chemicals and Drugs5

Phenomena and Processes3

Information Science1

Health Care5

Geographicals4

Anomalies14

SIX17

Hypoplasia6

Malformations2

Agenesis6

Abnormalities11

Mutations3

Branchiootorenal1

Signs and symptoms3

Branchial arch2

Melnick-Fraser1

Autosomal dominant4

Waardenburg2

Jervell2

Dysplasia1

40,000 in Western countries2

Symptoms3

Overgrowth syndrome2

Cysts3

Auditory2

Usher3

22q115

ESRD2

Clinical3

Deletion2

Anomaly1

Hereditary1

Gene1

Defects2

Chromosomal1

Mutation2

Hearing1

Abnormal2

ADPKD1

Phenotype1

Developmental2

Disease1