is a pleotropic genetic disorder, which may present as a wide spectrum of clinical signs.
Katsanis, "Mechanistic insights into Bardet-Biedl syndrome
, a model ciliopathy," Journal of Clinical Investigation, vol.
When a case of Bardet-Biedl syndrome
is suspected, a careful history is taken and a thorough clinical examination is done.
The cardinal manifestations of Bardet-Biedl syndrome
, a form of Laurence-Moon-Biedl syndrome.
The family has had support from charity Bardet-Biedl Syndrome
UK which is due to receive a grant from Jeans for Genes to fund two booklets.
Slusarski, "Bardet-Biedl syndrome
genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function," Human Molecular Genetics, vol.
Christopher Pugh's sight is already fading because of the rare genetic condition Bardet-Biedl Syndrome
Finding the cause of an obscure disease called Bardet-Biedl syndrome
was the first big find.
These include such conditions as polycystic kidney disease, retinitis pigmentosa in the eye, and rare inherited disorders such as Alstrom syndrome, Bardet-Biedl syndrome
, primary ciliary dyskinesia and nephronopthisis.
Ten children with genetic syndromes were one each as a case of Bardet-Biedl syndrome
, Prader-Willi syndrome, Angelman syndrome, Russell-Silver syndrome, Schwartz-Jampel syndrome, Smith-Lemli-Opitz syndrome and Cornelia de Lange syndrome.
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome
. Proceedings of the National Academy of Sciences of the United States of America 105(18):6714-6719, 2008.
Prader Willi Syndrome, CHARGE syndrome, Bardet-Biedl syndrome
, congenital adrenal hyperplasia, DAXI and leptin deficiency, etc.