Branchio-oto-renal syndrome
Branchio-oto-renal syndrome (pronunciation: brahn-kee-oh-oh-toh-ree-nuhl sin-drohm) is a genetic disorder that typically affects the development of the ear, neck, and kidney. The term is derived from the Greek words branchia (gills), oto (ear), and renal (kidney).
Overview
Branchio-oto-renal syndrome is characterized by a range of symptoms, including branchial cleft abnormalities, hearing loss, and kidney disease. The severity and combination of symptoms can vary widely among affected individuals. This syndrome is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the disorder to each of their children.
Symptoms
The most common symptoms of branchio-oto-renal syndrome include:
- Branchial cleft abnormalities: These are typically present as skin tags or pits on the neck.
- Hearing loss: This can be conductive, sensorineural, or mixed and is usually present from birth.
- Kidney disease: This can range from mild kidney abnormalities to end-stage renal disease.
Causes
Branchio-oto-renal syndrome is caused by mutations in the EYA1, SIX1, or SIX5 genes. These genes are involved in early development, and mutations can disrupt the normal development of the ear, neck, and kidney.
Diagnosis
Diagnosis of branchio-oto-renal syndrome is based on clinical features and can be confirmed by genetic testing.
Treatment
Treatment for branchio-oto-renal syndrome is symptomatic and supportive. This may include surgery for branchial cleft abnormalities, hearing aids for hearing loss, and dialysis or kidney transplantation for kidney disease.
See also
External links
- Medical encyclopedia article on Branchio-oto-renal syndrome
- Wikipedia's article - Branchio-oto-renal syndrome
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