Primary renal disease as a consequence of BBS appears to present in early childhood. The evidence presented here could have a direct clinical implication for patients with BBS. [jasn.asnjournals.org]

Progressive vision loss due to retinal dystrophy, together with moderate intellectual deficit (when present), behavioral anomalies, hypomimia and obesity will affect the social life of these patients. [orpha.net]

Clinical presentation The clinical spectrum includes: retinal anomalies: similar to that of retinitis pigmentosa intellectual disability renal structural anomalies polydactyly: often post-axial 4 obesity: often truncal hypogonadism: in males History and [radiopaedia.org]

A rare classical presentation of Bardet-Biedl syndrome in a three-year-old male from South East Nigeria: a case report. Case Reports Clin Med. 2016; 5: 243-49. 4. Ahmed SN, Shahin MA, Chowdhury R, Ahammad AM, Shazzad MN, Alam MR, et al. [paediatricaindonesiana.org]

In 31% of the children and 42% of the adults with BBS chronic kidney disease is present. [dovepress.com]

• Weight Gain

  Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. [encyclopedia.pub]

  Abnormal weight gain begins in early childhood and continues throughout adulthood. As a result, obesity-related diabetes, high blood pressure, and high cholesterol may also develop. [myriad.com]

  Weight is usually normal at birth but weight gain is quickly evident through the first year of life in as many as 90% of people with BBS. [rarediseases.org]

• Pathologist

  […] similar to that of retinitis pigmentosa intellectual disability renal structural anomalies polydactyly: often post-axial 4 obesity: often truncal hypogonadism: in males History and etymology It is named after: Arthur Biedl (1869-1933): Romano-Hungarian pathologist [radiopaedia.org]

• Falling

  As a result, in the 40 cases studied by NGS, there was a higher proportion of families falling into the “digenic triallelic” subgroup (78%) than into the “monogenic biallelic” subgroup (41%) (Fig. 2a). The overall oligogenic rate was 51% (23/45). [nature.com]

• Polydipsia

  Investigation of clinical symptoms as anemia, polyuria, and polydipsia, hypertension, urinary tract infection, renal colic, symptoms of neurogenic bladder or bladder outflow obstruction is important at each evaluation visit. [dovepress.com]

• Ataxia

  Usually, the olfactory bulb is abnormal on the brain MRI.12,89 MRI is also requested for evaluation of other neurological conditions (ataxia, hypotonia, seizures). [dovepress.com]

  Additional, secondary features include other neurological problems (ataxia, hypertonia), Hirschsprung disease, endocrine disturbances such as type 2 diabetes mellitus and hypercholesterolemia, liver involvement, dental anomalies, congenital heart disease [bmcmedgenomics.biomedcentral.com]

  Additional findings are type 2 diabetes mellitus, speech or developmental alterations, dental anomalies, brachydactyly/syndactyly, ataxia, anosmia/hyposmia, heart malformations, or Hirschsprung disease1,2. [nature.com]

• Polyuria

  Investigation of clinical symptoms as anemia, polyuria, and polydipsia, hypertension, urinary tract infection, renal colic, symptoms of neurogenic bladder or bladder outflow obstruction is important at each evaluation visit. [dovepress.com]

Treatments for the Two Conditions Treatment of BBS is focused on treating the symptoms of the disorder, such as vision correction or kidney transplants. [verywellhealth.com]

Debunking an Alleged Treatment on the Internet How do you know if a treatment is legit? There should be preclinical and clinical trial data published in a peer-reviewed journal on research for the treatment. Eye On the Cure Research News All Research [fightingblindness.org]

Genetic testing can identify the specific pathogenic variant present and lead to more personalized treatment. [fulgentgenetics.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Weight changes were noted after 52 weeks of treatment. [dovepress.com]

Prognosis The renal abnormalities are the main life-threatening manifestations because they can lead to end-stage renal failure and require renal transplantation. [orpha.net]

What Is the Prognosis for an Individual with Bardet-Biedl Syndrome, BBS1-Related? Predicting symptoms and the course of the disease for individuals with BBS can be difficult due to the variable nature of the condition. [myriad.com]

Prognosis For those with Laurence-Moon syndrome, life expectancy is usually shorter than other people. The most common cause of death is linked to renal or kidney issues. [verywellhealth.com]

On the Cure Research News Oct 6, 2016 Embrace Your Exceptions: A Mantra for Understanding Retinal-Disease Inheritance The complex and elusive nature of these conditions can also extend to the way they are passed down in families, making diagnosis and prognosis [fightingblindness.org]

Etiology The wide clinical spectrum observed in BBS is associated with significant genetic heterogeneity. To date, mutations in 12 different genes (BBS1 to BBS12) have been identified as being responsible for this phenotype. [orpha.net]

Summary Epidemiology Its prevalence in Europe is estimated at between 1/125,000 and 1/175,000. [orpha.net]

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A. 2005;132A(4):352–360. doi:10.1002/ajmg.a.30406 Forsythe E, Kenny J, Bacchelli C, Beales PL. [verywellhealth.com]

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am. J. Med. Genet. A. 132A, 352–360 (2005). [nature.com]

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]

Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9):620–627. doi:10.4103/0301-4738.194328 Shrestha S, Chaudhary N. A rare case of obesity. Can it be Bardet-Biedl Syndrome?. [verywellhealth.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]

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]

At the same time, it enables scientists to search the “de-identified” (i.e., anonymous) patient information to study conditions and identify targets for treatments, preventions and cures. [fightingblindness.org]

[…] depletion (low-sodium diet, drink adequate amounts of water).74 Metabolic Syndrome Metabolic syndrome has an incidence of 54.3% in patients with BBS.24 Early detection of metabolic syndrome followed by appropriate treatment is necessary in order to prevent [dovepress.com]

This non-synonymous change, which has been previously described as a dominant-negative allele17,37, disrupts the protein conformation of the BBSome, thus preventing them from doing their proper function17,37. [nature.com]