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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Branchiootorenal syndrome


Other Names for this Disease

  • BOR syndrome
  • Branchio oto renal syndrome
  • Branchiootorenal dysplasia
  • Melnick-Fraser syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs ans symptoms of branchiootorenal syndrome?

Signs and symptoms of branchiootorenal syndrome can vary greatly from person to person and even between people within the same family.[1] Hearing loss is the most common symptom and is shared by approximately 90% of people with this syndrome. Hearing loss may be conductive, sensorineural, or a combination of both.[2][3] Other common signs and symptoms include branchial cleft cysts, branchial fistulae, outer, middle, and inner ear malformations, and kidney malformations.[4][2][5][1] Specifically mutations in the EYA1 or SIX1 genes can be associated with kidney malformations.[5]

You can find more details regarding the signs and symptoms of branchiootorenal syndrome by visiting the Genetic Home Reference Web site at the following link:
http://ghr.nlm.nih.gov/condition=branchiootorenalsyndrome
Last updated: 2/28/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Branchiootorenal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Hearing impairment 90%
Preauricular pit 75%
Abnormality of the inner ear 50%
External ear malformation 50%
Mixed hearing impairment 50%
Preauricular skin tag 50%
Renal hypoplasia/aplasia 50%
Cupped ear 45%
Microtia 45%
Stenosis of the external auditory canal 30%
Lacrimal duct aplasia 25%
Lacrimal duct stenosis 25%
Facial palsy 10%
Atresia of the external auditory canal 7.5%
Cleft palate 7.5%
Lacrimation abnormality 7.5%
Micrognathia 7.5%
Multicystic kidney dysplasia 7.5%
Renal insufficiency 7.5%
Vesicoureteral reflux 7.5%
Abnormality of the cerebrum -
Abnormality of the renal collecting system -
Autosomal dominant inheritance -
Bifid uvula -
Branchial cyst -
Branchial fistula -
Cholesteatoma -
Cleft palate -
Congenital hip dislocation -
Dilatated internal auditory canal -
Euthyroid goiter -
Gustatory lacrimation -
Heterogeneous -
High palate -
Hypoplasia of the cochlea -
Incomplete partition of the cochlea type II -
Incomplete penetrance -
Intestinal malrotation -
Long face -
Microdontia -
Narrow face -
Overbite -
Polycystic kidney dysplasia -
Preauricular skin tag -
Renal agenesis -
Renal dysplasia -
Renal malrotation -
Renal steatosis -
Variable expressivity -
Vesicoureteral reflux -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Niaudet P. Branchiootorenal (BOR) syndrome. Orphanet. 2007; Accessed 1/8/2010.
  2. Smith RJH, Van Camp G. Deafness and Hereditary Hearing Loss Overview. GeneReviews. 2008; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=deafness-overview. Accessed 1/8/2010.
  3. Branchiootorenal syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=branchiootorenalsyndrome. Accessed 1/8/2010.
  4. Husein M, Smith JH. Genetic Sensorineural Hearing Loss. In: Cummings et al., eds. Otolaryngology: Head & Neck Surgery, 4th ed. Philadelphia, PA: Mosby, Inc; 2005;
  5. Swiatecka-Urban A. Multicystic Renal Dysplasia. eMedicine. 2009; http://emedicine.medscape.com/article/982560-overview. Accessed 1/8/2010.


Other Names for this Disease
  • BOR syndrome
  • Branchio oto renal syndrome
  • Branchiootorenal dysplasia
  • Melnick-Fraser syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.