Bardet-Biedl syndrome


Also found in: Acronyms, Wikipedia.

Bar·det-Bie·dl syn·drome

(bahr'dā bē'dĕl), [MIM*209900]
mental retardation, pigmentary retinopathy, polydactyly, obesity, and hypogenitalism; autosomal recessive inheritance.
See also: Laurence-Moon syndrome.

Bardet,

Georges, French physician, 1885–.
Bardet-Biedl syndrome - mental retardation, pigmentary retinopathy, polydactyly, obesity, and hypogenitalism.

Biedl,

Artur, Austrian physician, 1869-1933.
Bardet-Biedl syndrome - see under Bardet
Biedl disease
Laurence-Moon-Biedl syndrome - see under Laurence
References in periodicals archive ?
When a case of Bardet-Biedl syndrome is suspected, a careful history is taken and a thorough clinical examination is done.
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.
106) Characterized as cerebello-oculo-renal syndromes, different types of Senior-Locken syndrome (SLSN), Joubert syndrome (JBTS), Meckel-Gruber syndrome, and Bardet-Biedl syndrome have all been associated with and are allelic with various nephronophthisis loci (Table).
Key words: Retinitis pigmentosa, Retinal degenerations, Photoreceptors, Incidence of retinitis pigmentosa in Puerto Rico, Bardet-Biedl syndrome
Bardet-Biedl syndrome (pronounced BAR-day BEED-el) "is a relatively rare genetic disorder, but it has traits common to many people," declares Nicholas Katsanis, assistant professor in the McKusick-Nathans Institute of Genetic Medicine.
com 1,2,3,4,5 BANNAYAN, RUVALCABA, RILEY-SMITH SYNDROME See: Sotos Syndrome BARDET-BIEDL SYNDROME See: Laurence-Moon-Bardet-Biedl Syndrome BATTEN DISEASE See also: Tay-Sachs Disease Batten's Disease Support and Research Association 2600 Parsons Ave.
It is associated with cardiovascular malformations and various syndromes, including Down syndrome, neurofibromatosis, Laurence-Moon or Bardet-Biedl syndrome, multiple endocrine neoplasia, Waardenburg's syndrome, neuroblastoma and Ondine's curse (Haddad syndrome) to name a few.
These include such conditions as polycystic kidney disease, retinitis pigmentosa in the eye, and rare inherited disorders such as Alstr"m syndrome, Bardet-Biedl syndrome, primary ciliary dyskinesia and nephronopthisis.
Q I have two children diagnosed with Bardet-Biedl syndrome.
Forms of RP and other inherited orphan retinal diseases include Usher syndrome, Stargardt's disease, Leber's congenital amaurosis, rod-cone disease, Bardet-Biedl syndrome, Choroideremia, and Retinoschisis, among others.
It is clear that the Bardet-Biedl syndrome is distinct from the Laurence-Moon syndrome.
In ciliopathies such as Bardet-Biedl Syndrome, the primary cilium of cells is abnormal and leads to a host of problems.