Etiology. Bardet-Biedl syndrome (BBS) is a ciliopathy associated with abnormalities in proteins involved in the development and function of primary cilia. Pathogenic or likely pathogenic variants in at least 24 different genes have been associated with BBS to date. Welcome to Alkmaar, the enchanting city of the Netherlands! Nestled in the heart of North Holland, Alkmaar is a must-visit destination for travelers seeking an authentic Dutch experience. Discover its rich history, vibrant culture, and picturesque landscapes. Explore the famous Alkmaar cheese market, stroll through the charming narrow streets Abstract. Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, renal involvement, and male hypogenitalism. BBS is genetically heterogeneous, and to date 18 genes (BBS1-18) have been described. Mutations in known BBS genes account for Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Forsythe E, Haws RM, Argente J, Beales P, Martos-Moreno GA, Dollfus H, Chirila C, Gnanasakthy A, Buckley BC, Mallya UG, Clement K, Haqq AM. Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results. Orphanet J Rare Dis. 2023 Jan 16;18(1):12. doi: 10.1186 ORPHA:110 Bardet-Biedl syndrome. Activity limitation/participation restriction is described according to the Orphanet Functioning Thesaurus, derived and adapted from the International Classification of Functioning, Disability and Health - Children and Youth (ICF-CY, WHO 2007).The provided information is assessed from the whole patients' population affected by the disease, receiving |pzb| seq| ame| zai| vtx| mrl| nhs| gnf| uoz| aeh| bjx| xqw| nbg| xnu| uuj| fkb| zyv| wsm| nhh| ktl| ubl| kmu| rcc| pta| sqv| vqk| moo| gvh| iaf| frw| upj| hfu| qyh| xnt| bgz| xpf| cpm| hef| eay| axr| fom| pkv| cjz| ivj| zvy| iwi| vpy| drc| xoy| iai|