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]

This karyotype, present in between 1-2 per thousand male births, is variable in its presentation, and frequently passes unnoticed; the usual clinical presentation is with hypogonadism or infertility. [diapedia.org]

The diagnosis of BBS was accepted if three of the aforementioned symptoms were present, or two of the first three symptoms mentioned, or if two symptoms were present and a gene mutation in one of the BBS genes was detected ( Table 1 ). [cjasn.asnjournals.org]

Primary cilia have a broad tissue distribution and are present on most cell types in the human body. [neocyst.de]

• Weight Gain

  Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. [rarediseases.info.nih.gov]

  Additionally, individuals with this condition may be born with polydactly (extra fingers or toes) and develop issues with weight gain that can lead to childhood obesity. [diseaseinfosearch.org]

  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]

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

• Rigor

  Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. [blueprintgenetics.com]

• Vertigo

  No patient experienced true rotatory vertigo or dizziness during the vestibular test. Spontaneous nystagmus occurred in one patient. Positional nystagmus was observed in three patients (50%). [bmcmedgenet.biomedcentral.com]

• Cognitive Disorder

  Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. [^] 2. [moldiag.com]

Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice. [books.google.de]

Has limited or no treatment options Finally, some diseases are not currently curable and effective treatment options are lacking. e.g. Krabbe disease, Bloom syndrome, Pompe disease. [counsyl.com]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

There is currently no treatment for this condition, but scientists have identified genes which cause this condition which may contribute to research efforts. [diseaseinfosearch.org]

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]

The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. [rarediseases.info.nih.gov]

Prognosis [ 2 ] Prognosis is very poor where renal failure occurs. Prevention [ 4 ] Genetic counselling and pre-conception genotyping of family members may be worthwhile if the genetic mutation has been identified in a family member. [patient.info]

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]

The visual prognosis for children with Bardet-Biedl syndrome is poor, progressive loss of visual acuity arised early in the first decade of life. [scielo.br]

Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management [books.google.de]

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]

PMID: 21150877Free PMC Article Etiology Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. [ncbi.nlm.nih.gov]

On the basis of electroencephalography, disorders with epileptic etiology were ruled out. Ophthalmological tests showed bilateral hyperopic astigmatism. [omicsonline.org]

J Med Genet 1999; 36: 437–446. 2 Moore SJ, Green JS, Fan Y et al: Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. [neocyst.de]

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. 106) Characterized as cerebello-oculo-renal syndromes, different types of Senior-Locken syndrome (SLSN), Joubert syndrome [medical-dictionary.thefreedictionary.com]

Clinical, genetic and epidemiological studies. J Neurol Sci 1969;9:479-513. 7. Ramirez N, Marrero L, Carlo S, Cornier AS. Orthopaedic manifestations of Bardet-Biedl syndrome. J Pediatr Orthop 2004;24:92-6. 8. [mjdrdypu.org]

The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland: clinical, genetic and epidemiologic studies. J. neurol. Sci. 9, 479–513 (1969). Article CAS PubMed Google Scholar Bell, J. [nature.com]

Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any [books.google.de]

The underlying pathophysiology involves a complex interaction between genetic factors and ciliary dysfunction. [patient.info]

Other known ciliopathies include primary ciliary dyskinesia, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal degeneration. [6] Pathophysiology [ edit ] The detailed biochemical [en.wikipedia.org]

Extensive future genotyping studies may reveal genotype-phenotype correlations, allowing early diagnosis and better understanding of the pathophysiology of associated cardiovascular abnormalities. [cjasn.asnjournals.org]

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 [ 4 ] Genetic counselling and pre-conception genotyping of family members may be worthwhile if the genetic mutation has been identified in a family member. [patient.info]

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]

There is no proven effective treatment to either prevent or improve the outcome in vision. A low-calorie and low-fat diet was advised to control obesity as per the dietitian's recommendations, and physical exercises were stressed upon. [mjdrdypu.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]

Targeted screening of ethnically restricted disease mutations in the appropriate population subgroups has also demonstrated its efficiency in disease prevention [ 6 ]. [ojrd.biomedcentral.com]