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How many BBS genes are there?
Causes. Bardet-Biedl syndrome can result from mutations in at least 14 different genes (often called BBS genes). These genes are known or suspected to play critical roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells.
What is BBS in medical?
Summary. Bardet-Biedl syndrome (BBS) is a genetic condition that impacts multiple body systems. It is classically defined by six features. Patients with BBS can experience problems with obesity, specifically with fat deposition along the abdomen. They often also suffer from intellectual impairments.
What is BBS surgery?
The Best Bypass Surgery Trial (BBS Trial) is a randomised trial. Patients will be randomised to one of two groups. The randomisation will be 1:1, in blocks, stratified by gender, age (55 to 65 years; > 65 years), diabetes mellitus, and EuroSCORE (5-7; 8-10; 11-13; 14-16).
How is Bardet-Biedl syndrome treated?
Treatment. There is no cure for Bardet-Biedl syndrome . Treatment generally focuses on the specific signs and symptoms in each individual: While there is no therapy for the progressive vision loss, early evaluation by a specialist can help to provide vision aids and mobility training.
What is Meckel Gruber syndrome?
Meckel–Gruber syndrome is a lethal developmental syndrome characterized by posterior fossa abnormalities (most frequently occipital encephalocele) (Figures 1A,B), bilateral enlarged cystic kidneys (Figures 1C–E), and hepatic developmental defects that include ductal plate malformation associated with hepatic fibrosis …
What is full form BBS?
BBS course full form is Bachelor of Business Studies course. This course covers the subjects related to business and finance.
What are the features of BBS?
Bardet–Biedl syndrome (BBS), sometimes known as Laurence–Moon–Bardet-Biedl syndrome, is a rare autosomal recessive ciliopathy characterized by rod-cone dystrophy, learning difficulties, polydactyly, obesity, genital malformations, and renal abnormalities.
What is the life expectancy of someone with Bardet-Biedl syndrome?
On life-table analysis, 25% of BBS patients had died by 44 years, whereas at that age 98% of unaffected siblings were still alive (P < 0.0001). Bardet-Biedl syndrome has an adverse prognosis, with early onset of blindness, obesity, hypertension, and diabetes mellitus.
How is Meckel syndrome diagnosed?
A diagnosis of Meckel syndrome is often made on ultrasound during pregnancy or at birth thorough clinical evaluation. Molecular genetic testing can be used to confirm the diagnosis and guide genetic counseling.
What causes Ellis Van Creveld syndrome?
Causes. Ellis-van Creveld syndrome can be caused by mutations in the EVC or EVC2 gene. Little is known about the function of these genes, although they appear to play important roles in cell-to-cell signaling during development.