Branchiootorenal syndrome
Branchiootorenal syndrome (pronounced: bran-kee-oh-oh-toh-REN-al sin-drome), also known as BOR syndrome or Melnick-Fraser syndrome, is a rare genetic disorder that typically affects the development of the ear, neck, and kidney. The term "branchiootorenal" is derived from the Greek words "branchia" (gills), "oto" (ear), and "renal" (kidney).
Etymology
The term "branchiootorenal" is derived from the Greek words "branchia" (gills), "oto" (ear), and "renal" (kidney). This reflects the areas of the body that are typically affected by the syndrome.
Symptoms
The symptoms of Branchiootorenal syndrome can vary greatly from person to person. However, common symptoms often include hearing loss, kidney abnormalities, and branchial clefts or branchial fistulas on the neck.
Causes
Branchiootorenal syndrome is caused by mutations in the EYA1, SIX1, or SIX5 genes. These genes are involved in early development, particularly of the ear, neck, and kidneys.
Diagnosis
Diagnosis of Branchiootorenal syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.
Treatment
Treatment for Branchiootorenal syndrome is typically supportive and based on the signs and symptoms present in each person. This may include hearing aids for hearing loss, surgery for branchial clefts or fistulas, and treatment for kidney abnormalities.
See also
References
External links
- Medical encyclopedia article on Branchiootorenal syndrome
- Wikipedia's article - Branchiootorenal syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski