Presentation
Machinery murmur from patent ductus arteriosus may be present. S3 may be heard. [wikidoc.org]
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]
Using the same background illumination, the bright flash was presented at 30 Hz and then sweeps were averaged. [karger.com]
Postaxial polydactyly was present in all four limbs in 23 patients (21%). In nine patients (8%) the extra digit was only present on the hands and in 23 (21%) only on the feet. [jmg.bmj.com]
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 [radiopaedia.org]
Entire Body System
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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]
Gastrointestinal
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Overeating
A 24-dB neutral density filter over a strobe lamp was presented as a dim white flash stimulus. The background of the Ganzfeld dome was then illuminated at 39 cd/m 2. [karger.com]
Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood. [ghr.nlm.nih.gov]
It may be helpful to go over, with your doctors, this comprehensive list of recommended evaluations from the National Institutes of Health. 2. [bardetbiedl.org]
Retinal degeneration occurs in over 90% of BBS patients and visual prognosis is poor [ 3 ]. Retinal dystrophy in BBS is progressive and varies in severity. [bmcmedgenet.biomedcentral.com]
Many children who are later (explicitly and formally) diagnosed with the syndrome have gone through an extended period of time where school and medical professionals have struggled to find a name for the child's problems over several years. [wikidoc.org]
Musculoskeletal
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Muscle Weakness
BBS is distinguished from the much rarer Laurence-Moon syndrome, in which retinal pigmentary degeneration, mental retardation, and hypogonadism occur in conjunction with progressive spastic paraparesis and distal muscle weakness, but without polydactyly [jmg.bmj.com]
Neurologic
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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]
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Hyperactivity
Some children are hyperactive with attention deficit, while others are docile with unwavering attention toward subjects that interest them. Adult patients are often disinhibited and appear unable to recognise social cues. [jmg.bmj.com]
Urogenital
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Renal Impairment
Notably, patients with BBS10 variants had the most severe renal impairment, which resulted in a critical decline in renal function. [bmcmedgenet.biomedcentral.com]
Characteristic cystic tubular disease, lower urinary tract malformations, chronic glomerulonephritis, and defects of tubular concentrating ability are among the commonest causes of renal impairment. 18 Our study highlights the fact that renal abnormalities [jmg.bmj.com]
Cramer, B.C. and Green, J. ( 1996 ) The importance of renal impairment in the natural history of Bardet–Biedl syndrome. Am. J. [academic.oup.com]
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Absent Kidney
Developmental abnormalities included horseshoe, ectopic, duplex, and absent kidneys. Where several abnormalities were present, the predominant structural defect is reported. [jasn.asnjournals.org]
Treatment
This research will provide clues to develop future treatments. [bardetbiedl.org]
Official Title: Treatment of Infantile and Juvenile Patients With Bardet-Biedl-Syndrome With Metformin. [clinicaltrials.gov]
Therapeutic Considerations There is no treatment to prevent deterioration of vision. Surgical excision of extra digits can be performed. [aao.org]
Treatment aims to reduce the symptoms experienced by a person with BBS. Regular eye check-ups by an ophthalmologist will highlight any existing problems. Visual aids and educational programmes can assist with visual difficulties. [contact.org.uk]
There is no cure for Bardet-Biedl syndrome to date, but treatment can relieve symptoms 11. Visual aids and educational programs for the visually impaired. Obesity is managed with diet, exercise, and behavioral therapies. [centogene.com]
Prognosis
This finding, which is unusual in BBS, negatively affected prognosis and caused the patient’s death at the age of 18 years. [bmcmedgenet.biomedcentral.com]
Generally, the existence of modifier alleles imposes a great challenge in establishing clear-cut genotype-phenotype correlations and complicates an accurate prognosis for affected individuals. [nature.com]
Etiology
Consanguinity and eye diseases with a potential genetic etiology. Data from a prevalence study in Andhra Pradesh, India. Ophthalmic Epidemiol 13, 7–13 (2006). Khan, S. et al. [nature.com]
During the last 12 months, the first three of at least six BBS genes have been identified, providing us for the first time with the ability to formulate hypotheses regarding the molecular etiology of the disorder. [academic.oup.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. 132 (4): 352–60. PMID 15637713. [wikidoc.org]
Epidemiology Prevalence in Newfoundland is about 10 times than in Switzerland (1 in 160,000) and is similar to prevalence among the Bedouins of Kuwait (1 in 13,500). Clinical Findings BBS is a ciliopathy with protean manifestations. [aao.org]
CKD-EPI (Chronic Kidney Disease Epidemiology Collaboration). A new equation to estimate glomerular filtration rate. Ann Intern Med. 2009;150:604–12. 18. Rundle FW, McCabe BF. [bmcmedgenet.biomedcentral.com]
Clinical, genetic and epidemiological studies. J Neurol Sci 9, 479–513 (1969). Moore, S. J. et al. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. [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]
Pathophysiology
Pathophysiology Even though the detailed biochemical mechanism that leads to BBS is unclear, the syndrome is thought to result largely from a defect in basal body of ciliated cells. [wikidoc.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
Surgery to remove extra digits prevents difficulties walking and balancing and poor fitting of footwear. [contact.org.uk]
Therapeutic Considerations There is no treatment to prevent deterioration of vision. Surgical excision of extra digits can be performed. [aao.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]
These molecular insights are helpful in genetic counseling of the affected families to prevent disease inheritance in the next generations. Additional Information How to cite this article : Maria, M. et al. [nature.com]