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]

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]

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

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]

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]

• 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]

  Significant weight gain begins in infancy and becomes a lifelong issue. [mjdrdypu.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]

• Learning Difficulties

  Education Learning difficulties were reported for 68 (62%) BBS patients. Fifty four (50%) attended a special school because of learning difficulties, visual impairment, or both. [jmg.bmj.com]

  Cognitive impairment (50-61%) - learning difficulties, speech deficits and behavioural problems, including autistic traits and psychosis, have all been described. [patient.info]

  The main clinical features are rod–cone dystrophy, with childhood-onset visual loss preceded by night blindness; postaxial polydactyly ; truncal obesity that manifests during infancy and remains problematic throughout adulthood; specific learning difficulties [en.wikipedia.org]

  Clinical symptoms of the disorders affecting these structures are: retinal pigmentary degeneration, polydactyly, learning difficulties, and formation of kidney, liver and pancreas cysts. [omicsonline.org]

• Behavior Problem

  We referred the patient to a counselor for behavioral problems. There is no proven effective treatment to either prevent or improve the outcome in vision. [mjdrdypu.org]

  Additional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination [ghr.nlm.nih.gov]

• 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]

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]

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]

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]

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]

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]

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

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]

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]

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]

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]

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

Cardiovascular risk factors need to be considered and, if present, treated early to prevent subsequent complications. [cjasn.asnjournals.org]