What is Bardet-Biedl syndrome?
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 a Ciliopathy?
Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. … Ciliopathic features have been associated with mutations in over 40 genes to date.
What is a PKD?
Polycystic kidney disease (PKD) is an inherited disorder in which clusters of cysts develop primarily within your kidneys, causing your kidneys to enlarge and lose function over time. Cysts are noncancerous round sacs containing fluid. The cysts vary in size, and they can grow very large.
A cilium, or cilia (plural), are small hair-like protuberances on the outside of eukaryotic cells. They are primarily responsible for locomotion, either of the cell itself or of fluids on the cell surface. They are also involved in mechanoreception.
What is Meckel 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 …
How common is Barth Syndrome?
Barth syndrome affects all ethnic groups. The incidence of Barth syndrome is estimated to be 1 in 300,000 to 1 in 400,00 in United States. As of 2013, there have been 151 patients reported in the medical literature.
What is para Willi?
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development.
What causes Bardet-Biedl syndrome?
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 Carpenter’s syndrome?
Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly).
Where are cilia found?
‘Motile’ (or moving) cilia are found in the lungs, respiratory tract and middle ear. These cilia have a rhythmic waving or beating motion. They work, for instance, to keep the airways clear of mucus and dirt, allowing us to breathe easily and without irritation.
What is senior Loken syndrome?
Senior-Løken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as Leber congenital amaurosis. Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood.
What is a BBS blood test?
Test description The Invitae Bardet-Biedl syndrome Panel analyzes 16 genes that are associated with Bardet-Biedl syndrome (BBS), which is characterized by truncal obesity, cognitive impairment, rod-cone dystrophy and renal abnormalities.