Presentation
Early in life, the child presented a developmental delay: crawling at 18 months, sitting at 24 months, speech acquisition after 3 1/2 years. [hindawi.com]
Case Reports Patient with Bardet-Biedl syndrome presenting with nystagmus at fifteen months of age M A Musarella. J AAPOS. 2001 Aug. [pubmed.ncbi.nlm.nih.gov]
These may be present at birth or may become noticeable as the child grows. For diagnosis, four primary symptoms should be present, or three primary plus two secondary symptoms. There is no specific test to detect the presence of BBS. [uhb.nhs.uk]
The phenotypes generally taken to identify each are presented in Table 2. [bjo.bmj.com]
If an individual receives one normal allele and one mutated allele (that is responsible for causing illness), the person will be a carrier for the disease, but usually will not present with symptoms. [rarediseases.org]
Treatment
Toxic causes related to 6-mercaptopurine treatment were also excluded by weaning him off the treatment for a prolonged time. [hindawi.com]
Standard Therapies Treatment The primary treatment goal for patients with BBS involves treating the specific symptoms affecting each individual. [rarediseases.org]
Etiology
Etiologies of hepatitis were systematically explored. [hindawi.com]
Epidemiology
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A. 2005;132:352-60. Karmous-Benailly H, Martinovic J, Gubler MC, et al. [rarediseases.org]
Pathophysiology
The pathophysiology is not completely understood but recent studies confirmed the crucial role of proteins encoded by the BBS genes as components of the centrosome and/or basal body, and their implication either in the constitution of the primary cilia [hindawi.com]
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9): 620-627. Hufnagel RB, Arno G, Hein ND, et al. [rarediseases.org]
Prevention
Good diet management can prevent the weight-related problems that manifest in later life. Consulting with a primary care physician and a dietician can help in planning for adequate nutrition and prevention of excess weight gain. [rarediseases.org]
Discussion Studies on recessive diseases in Scandinavia are constrained by low consanguinity rate and small number of children, which prevents statistical significance of the clinical and genetic results for each family. [bjo.bmj.com]