Branchiootorenal syndrome 2
Summary
Excerpted from the GeneReview: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
42 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (42 available)
Clinical features
Help- Abnormality of head or neck
- Hemifacial hypoplasia
Hemifacial hypoplasia
- MedGen UID: 868995
- Concept ID: C4023411
- Finding: Disease or Syndrome
Abnormality of head or neck
- Hemifacial hypoplasia
- Abnormality of the genitourinary system
- Renal dysplasia
Renal dysplasia
- MedGen UID: 760690
- Concept ID: C3536714
- Finding: Congenital Abnormality
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Renal dysplasia
- Abnormality of the integument
- Preauricular skin tag
Preauricular skin tag
- MedGen UID: 395989
- Concept ID: C1860816
- Finding: Finding
Abnormality of the integument
- Preauricular skin tag
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
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