How common is Bardet-Biedl syndrome?

How common is Bardet-Biedl syndrome?

In most of North America and Europe, Bardet-Biedl syndrome has a prevalence of 1 in 140,000 to 1 in 160,000 newborns. The condition is more common on the island of Newfoundland (off the east coast of Canada), where it affects an estimated 1 in 17,000 newborns.

How is Bardet-Biedl syndrome treated?

Bardet–Biedl syndrome is currently treated symptomatically focusing in particular on aggressive management of diabetes, hypertension, and metabolic syndrome to minimize the secondary impact that these conditions have on vulnerable organ systems already affected by BBS, in particular the eyes and kidneys (17).

Who discovered Bardet-Biedl?

In 1920 and 1922, respectively, doctors Bardet and Biedl independently described two families with obesity, retinitis pigmentosa, and polydactyly. From 1925, the syndrome was known as Laurence–Moon–Bardet–Biedl syndrome, but there was disagreement as to whether they were the same entity.

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.

What is the life expectancy of someone with Bardet Biedl syndrome?

Who discovered Bardet Biedl?

What is the Bardet Biedl Syndrome Foundation?

The Bardet Biedl Syndrome Foundation and Family Association is dedicated to improving the lives of individuals and families affected by BBS. Our mission is to provide a community of support for individuals and families; information about BBS; and promote science and research to improve the lives of individuals with Bardet Biedl Syndrome.

What are the genetic etiologies of Bardet-Biedl syndrome?

Leitch CC, Zaghloul NA, Davis EE, et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008;40:443–448.

What is the prevalence of renal disease in Bardet Biedl syndrome?

Renal Disease in BBS Bardet–Biedl syndrome has classically been associated with polycystic kidney disease, a typical feature of ciliopathies with renal manifestations (13, 16, 23–29). The prevalence of renal disease in BBS has been estimated at 53–82% (13, 16, 25).

What tests are used to diagnose Bardet–Biedl syndrome (BBS)?

Diagnosis is based on clinical features. Molecular genetic testing is available and currently 16 genes are known to be associated with Bardet–Biedl syndrome (BBS), accounting for approximately 80% of clinically diagnosed BBS.