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]

Case Report A 10-year-old male, born of non-consanguineous marriage presented with generalized edema. [indianjnephrol.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]

Hydrocephalus, hypospadias, and facial dysostosis also may be present. Inheritance is disputed (AR or AD). Few cases have been reported, most of them before 1970. [updoc.site]

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

• Weight Gain

  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]

  Birth weight is usually normal in individuals with BBS. Significant weight gain begins in infancy and becomes a lifelong issue. [mjdrdypu.org]

  Everyone with BBS benefits from exercise and careful attention to diet to limit weight gain. Research is ongoing into understanding the basic mechanisms at the cellular level that ultimately cause BBS. [bardetbiedl.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]

• 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]

This book will be of interest to geneticists, epidemiologists, cardiologists, pediatricians, graduate students, researchers, and others interested in the treatment of individuals with CHDs. [books.google.it]

This research will provide clues to develop future treatments. [bardetbiedl.org]

RPB grants $500,000 to accelerate treatments for Retinitis Pigmentosa Research to Prevent Blindness (RPB), the leading eye research foundation, is providing $500,000 to accelerate the development of treatments for Retinitis Pigmentosa (RP) -- a family [news-medical.net]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment Treatment Options: No treatment exists for these syndromes but organ specific therapy may be helpful. [disorders.eyes.arizona.edu]

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]

(Outcomes/Resolutions) The prognosis of Bardet-Biedl Syndrome is generally guarded. [dovemed.com]

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]

First, the syndrome has got grave prognosis and second, patient seek first consultation in these specialties, by whom they should be guided to appropriate super specialties. [cjhr.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]

(Etiology) Bardet-Biedl Syndrome is generally inherited as an autosomal recessive disorder. At least 12 different genes, collectively termed as the BBS genes, are involved in the development of this disorder, in a majority of cases. [dovemed.com]

Etiologies of hepatitis were systematically explored. [hindawi.com]

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]

Relevant External Links for BBS5 Genetic Association Database (GAD) BBS5 Human Genome Epidemiology (HuGE) Navigator BBS5 Atlas of Genetics and Cytogenetics in Oncology and Haematology: BBS5 No data available for Genatlas for BBS5 Gene Bardet-Biedl syndrome [genecards.org]

Coverage includes a broad range of topics on the development, epidemiology, genetics, diagnosis, management, prevention, and public health issues of CHDs. [books.google.it]

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]

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]

The pathophysiology is not completely understood but recent studies confirmed the crucial role of proteins encoded by the BBS genes as components of the centrosome and/or basal body, and their implication either in the constitution of the primary cilia [hindawi.com]

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]

Coverage includes a broad range of topics on the development, epidemiology, genetics, diagnosis, management, prevention, and public health issues of CHDs. [books.google.it]

Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [livingnaturally.com]

RPB grants $500,000 to accelerate treatments for Retinitis Pigmentosa Research to Prevent Blindness (RPB), the leading eye research foundation, is providing $500,000 to accelerate the development of treatments for Retinitis Pigmentosa (RP) -- a family [news-medical.net]

Currently, there are no specific methods or guidelines to prevent Bardet-Biedl Syndrome, since it is a genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during [dovemed.com]

There are no proven effective treatments to either prevent or alleviate the deterioration in vision. However, spectacles were advised as low vision was present in our patient, and regular ophthalmological follow-up was stressed upon. [ijdvl.com]