Bardet–Biedl syndrome - Wikipedia
Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases. [2]
Bardet-Biedl syndrome | About the Disease | GARD
A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations. Summary.
Bardet-Biedl Syndrome Overview - GeneReviews® - NCBI Bookshelf
2003年7月14日 · Bardet-Biedl syndrome (BBS) is a multisystem non-motile ciliopathy primarily characterized by retinal cone-rod dystrophy, obesity and related complications, postaxial polydactyly, cognitive impairment, hypogonadotropic hypogonadism and/or genitourinary malformations, and renal malformations and/or renal parenchymal disease.
What is BBS? - Bardet Biedl Syndrome Foundation
Bardet Biedl Syndrome is a rare genetic disorder with highly variable symptoms which may include retinal degeneration, obesity, reduced kidney function, polydactyly (extra digits of the hands or feet) among many other features.
Bardet-Biedl Syndrome - Symptoms, Causes, Treatment | NORD
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 …
Bardet-Biedl syndrome - MedlinePlus
Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Vision loss is one of the major features of Bardet-Biedl syndrome.
Bardet-Biedl Syndrome (BBS): Symptoms, Treatment, and More
2024年9月16日 · Bardet-Biedl syndrome (BBS) is a rare genetic disorder affecting many organ systems. Read more about the symptoms, life expectancy, and treatment options.