Edit concept Question Editor Create issue ticket

Bardet-Biedl Syndrome Type 9

BBS


Presentation

  • The clinical analysis of affected individuals presented with synpolydactyly, obesity, intellectual disability, renal abnormality and retinitis pigmentosa. The presented phenotype was consistent with the major features of BBS syndrome.[bmcmedgenet.biomedcentral.com]
  • Polydactyly-type limb anomalies - these may be the only feature present at birth and are reported in 63-81% of patients.[patient.info]
  • Karmous-Benailly H, Martinovic J, Gubler MC, Sirot Y, Clech L, et al. (2005) Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet 76: 493-504.[omicsonline.org]
  • More than 700 full-color high-quality photographs as well as carefully chosen figures, algorithms, and tables to illustrate essential concepts, nuances of clinical presentation and technique, and decision making provide a visual grasp and better understanding[books.google.com]
  • WESTERN BLOT i Validation i Supported i Band of predicted size in kDa ( /-20%) with additional bands present.[proteinatlas.org]
Weight Gain
  • His daily dietary intake consisted mostly of fruits, vegetables, and 12 ounces of breast milk, as carbohydrates were restricted in an attempt to limit weight gain.[nature.com]
  • 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]
  • Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life.[ghr.nlm.nih.gov]
  • With low levels of thyroid stimulating hormone, people will experience many different symptoms: fatigue, sensitivity to cold, poor ability to concentrate, weight gain, constipation, shortness of breath.[rarediseases.org]
  • Patient interview questions should focus on eating and drinking habits, the pattern of weight gain, behavior, and the achievement of developmental milestones.[nutritionhouse.com]
Low Set Ears
  • Examination revealed a round face, low-set ears with fleshy lobes, a right ear pit (Fig. 1 ), a 2   1 cm café-au-lait spot on the right chest, and postaxial polydactyly on his right foot (Fig. 1 ).[nature.com]
Denial
  • The absence of additional regions of homozygosity throughout the proband’s genome supported the denial of known consanguinity.[nature.com]
Round Face
  • Examination revealed a round face, low-set ears with fleshy lobes, a right ear pit (Fig. 1 ), a 2   1 cm café-au-lait spot on the right chest, and postaxial polydactyly on his right foot (Fig. 1 ).[nature.com]
Excitement
  • Purpose Localization: Cilium, Excitation: 487, Emission: 509 Full plasmid sequence is not available for this item.[addgene.org]
Speech Disability
  • […] inch 4 feet 10 inch Weight 75 Kg 65 Kg BMI a 30.2 (Obese) 30.9 (Obese) Major BBS phenotypes Retinal degeneration Yes Yes Polydactyly Yes Yes Obesity Yes Yes Developmental delay Yes Yes Hypogonadism No No Renal abnormality Yes Yes Minor BBS phenotypes Speech[bmcmedgenet.biomedcentral.com]

Workup

  • His comprehensive metabolic panels, including glucose and endocrine workup (TSH, T4-free thyroxine, T4 total, T3 total, IGF, and IGFBP-3), were normal.[nature.com]

Treatment

  • More Symptoms of Bardet-Biedl syndrome type 9 » Treatments See also the following treatment articles: Treatments for Bardet-Biedl syndrome Names and Terminology References Source: Disease Ontology Source: Monarch Initiative Source: GARD (NIH): rarediseases.info.nih.gov[familydiagnosis.com]
  • This clinically oriented volume reviews the signs, symptoms and treatment of common ocular diseases and disorders in infants and children.[books.google.de]
  • Treatment - Bardet-Biedl syndrome 9 Not supplied. Resources - Bardet-Biedl syndrome 9 Not supplied.[checkorphan.org]
  • 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]
  • Read Our Guide to Genetic Testing Existing Treatments and Standard of Care Currently, there is no treatment or cure for Bardet-Biedl syndrome (BBS).[ffb.ca]

Prognosis

  • Prognosis - Bardet-Biedl syndrome 9 Not supplied. Treatment - Bardet-Biedl syndrome 9 Not supplied. Resources - Bardet-Biedl syndrome 9 Not supplied.[checkorphan.org]
  • 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]
  • 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]
  • Diagnosis of this syndrome is based mostly on clinical criteria and, due to a better prognosis, requires a priori exclusion of BBS [ 6, 15 ]. One of the known genes responsible for this syndrome is the MKS gene.[omicsonline.org]

Etiology

  • 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]
  • On the basis of electroencephalography, disorders with epileptic etiology were ruled out. Ophthalmological tests showed bilateral hyperopic astigmatism.[omicsonline.org]
  • Segregation mapping by STR markers in the complete family, through STR markers, confirmed the inheritance of the homozygous region with disease etiology.[bmcmedgenet.biomedcentral.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

  • When major dysfunction of the renal tubule cilia is involved, renal failure is a predominant feature and a leading cause of of BBS mortality. [ 2 ] Epidemiology [ 3, 4 ] BBS is a familial condition.[patient.info]
  • The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland: clinical, genetic and epidemiological studies. J Neurol Sci. 1969;9:479–513. CrossRef PubMed Google Scholar 13.[link.springer.com]
  • "Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study". Am. J. Med. Genet. 132 (4): 352–60. doi : 10.1002/ajmg.a.30406. PMC 3295827. PMID 15637713.[en.wikipedia.org]
  • We present an up-to-date review including clinical, epidemiologic and genetic aspects of the syndrome.[content.iospress.com]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • From basic science and pathophysiology to clinical best practices, Brenner & Rector’s The Kidney is your go-to resource for any stage of your career.[books.google.com]
  • 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]
  • 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]
  • 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]

Prevention

  • Prevention - Bardet-Biedl syndrome 9 Not supplied. Diagnosis - Bardet-Biedl syndrome 9 Not supplied. Prognosis - Bardet-Biedl syndrome 9 Not supplied. Treatment - Bardet-Biedl syndrome 9 Not supplied. Resources - Bardet-Biedl syndrome 9 Not supplied.[checkorphan.org]
  • By means of concise text supported by a wealth of color illustrations the authors' aim is to enable the reader to reach a fast and accurate diagnosis, to ensure early treatment which may ultimately prevent the occurrence of further disease.[books.google.de]
  • For long term storage, store at -20 C in small aliquots to prevent freeze-thaw cycles.[antibodies-online.com]
  • 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]
  • Prevention Genetics expands and updates their test menu, introduces new technologies and increases efficiency to keep high quality genetic testing attainable at a reasonable cost. Learn more at .[fdna.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!