U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Branchiootic syndrome 1

Branchiootic syndrome 1

Synonyms
BO syndrome 1; Branchiootic dysplasia

Summary

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.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Richard JH Smith
view full author information

Available tests

48 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BOP, BOR, BOS1, OFC1, OTFCS, EYA1
    Summary: EYA transcriptional coactivator and phosphatase 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.