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]

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]

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]

However, the present patient had a rare presentation of acute, rapidly progressing lower motor neuron type of neurological dysfunction in both lower limbs. [ijoonline.com]

• Weight Gain

  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. [ghr.nlm.nih.gov]

  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]

• Asymptomatic

  In most of the cases, only giving birth to a symptomatic child defines a family as being at genetic risk, with 25% chance of having another child with the disease and 50% of having offspring that are asymptomatic carriers [ 5, 6 ]. [omicsonline.org]

  The recruited individuals consist of both affected siblings (IV-4 and IV-5), one unaffected brother (IV-6) and an asymptomatic carrier mother (III-2). Pedigree analysis revealed an autosomal recessive mode of disease segregation (see Fig. 1 ). [bmcmedgenet.biomedcentral.com]

• Sepsis

  Sci. (2005) [ Pubmed ] The inhibition of inducible nitric oxide synthase in ovine sepsis model. [wikigenes.org]

• Pneumonia

  Since her birth, the child had frequent occurrences of bronchitis and pneumonia, as well as persistent auscultatory changes such as wheezing and buzz. Based on a bronchoscopic material ciliary dyskinesia was diagnosed. [omicsonline.org]

• Respiratory Insufficiency

  The neonatal period was complicated with respiratory insufficiency (the child was intubated on the first day of life and stayed on mechanical ventilation for nine days) and a generalized infection with staphylococci. [omicsonline.org]

• Dyspnea

  Due to the elevation of the diaphragm resulting in dyspnea, the decompression of two cysts was performed. The child was then transferred to a paediatric surgery clinic for further diagnostics and treatment. [omicsonline.org]

• Long Arm

  The BBS10 gene is located on the long arm of the chromosome 12(12q21.2) [ 7, 9 ]. The BBS10 gene provides instructions for making a protein that is found in many types of cells. [omicsonline.org]

• Dolichocephaly

  During the 26 th week of the pregnancy, ultrasonography showed slight dolichocephaly, an abnormal facial profile - low nasal bridge ( Figure 1 ), hypertelorism ( Figure 2 ). There was a noticeable nuchal edema, with the nuchal fold equalling 11 mm. [omicsonline.org]

• Short Arm

  arm of chromosome 7. [bmcmedgenet.biomedcentral.com]

• Clitoromegaly

  During the subsequent diagnosis a 2 nd grade virilisation of genital organs was observed: clitoromegaly, an urogenital sinus, and hydrocolpos. For this reason urine steroid profile was analysed, which excluded blocks of adrenal steroidogenesis. [omicsonline.org]

• Imperforate Hymen

  It is caused by the distension of the uterine cavity and the vagina due to an accumulation of cervical gland secretions stimulated by maternal and placental estrogen in the presence of the vaginal septation or atresia or an imperforate hymen [ 6, 16 ] [omicsonline.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]

• Dysphasia

  A speech examination identified congenital developmental dysphasia caused by endogenic factors. The girl had a perceptive-expressive disorder with a speech development delay. [omicsonline.org]

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]

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]

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]

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 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]

"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]

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]

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]

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

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]

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]

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

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 - 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 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]

Some protective therapies are being developed to specifically to prevent the death of cone photoreceptor cells and thus, prevent the loss of central vision. Corrective therapies aim to reverse the underlying genetic mutations that cause vision loss. [ffb.ca]