Infants present with severe fat and fat-soluble vitamin deficiencies, hematochezia and mild cholestasis, whereas adults present with various neurological disorders. [orpha.net]

Molecular genetic testing is available on a clinical basis for p.M390R, the common mutation in BBS1 that is present in approximately 18% - 32% of individuals with BBS and p.C91LfsX4 (also known as C91fsX95), a common mutation in BBS10, that is present [scielo.br]

Management and treatment Treatment is based on primary bile acid therapy with cholic acid. Dietary restriction of phytanic and pristanic acids is likely to be necessary in the long term to prevent neurotoxicity. [orpha.net]

Treatment of gingival overgrowth in a child with Bardet-Biedl syndrome. J Periodontol. 2007;78(6):1159-63. [ Links ] 3. Iannello S, Bosco P, Cavaleri A, Camuto M, Milazzo P, Belfiore F. [scielo.br]

Diagnosis of the condition is important for visual prognosis and low vision management. Ophthalmologic and electrophysiological examinations are essential for confirmation and correct diagnosis of BBS(5). [scielo.br]

Etiology BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). [orpha.net]

Summary Epidemiology Five cases have been reported to date: two siblings presenting with neonatal cholestasis and three adults with neurological disease. Clinical description The clinical presentation of this defect varies. [orpha.net]

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet. 2005; 132(4):352-60. [ Links ] 8. Bek T, Rosenberg T. [scielo.br]

Dietary restriction of phytanic and pristanic acids is likely to be necessary in the long term to prevent neurotoxicity. The documents contained in this web site are presented for information purposes only. [orpha.net]