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
(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.