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, inter- and intrafamilial variability of some ocular features has been observed in all the reports, including the present one. [jmg.bmj.com]

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]

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]

• Disability

  The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, various degrees of intellectual impairment, hypogonadism, and renal abnormalities. [scielo.br]

  Approximately 50% of individuals with the disease have developmental disabilities, which can range from delayed emotional development or mild learning difficulties to more severe intellectual disability. [myriad.com]

  Often, learning disabilities are attributed to weakened cognitive capacity. Some individuals affected with LNMS may have true learning disabilities due to dysfunction of brain development. [rarediseases.org]

  The extent of physical or mental disability may vary widely from one individual to the next. [diapedia.org]

• Developmental Delay

  Have your child evaluated for developmental delays. In some areas, a diagnosis of BBS or of developmental delays can help you access appropriate services very early in life which can help improve the developmental delays. [bardetbiedl.org]

  Minor (secondary) clinical features include speech delay, developmental delay, diabetes mellitus, dental anomalies, congenital heart disease, brachydactyly/syndactyly, ataxia/poor co-ordination, deafness and anosmia/hyposmia. [patient.info]

  delay and loss of muscle tone and control. [news-medical.net]

  Bardet-Biedl syndrome (BBS) clinically presents with retinal degeneration, limb abnormalities (polydactyly, brachydactyly), obesity (hyperphagia), developmental delay, reproductive anomalies and renal/ urinary tract abnormalities that may lead to renal [neocyst.de]

  You were developmental delays and therapies. You were sensory integration disorder, and then you were autism. You were endless stuttering and endless tantruming. You were strabismus, a hernia and a heart murmur. [themighty.com]

• Short Stature

  Clinical features include short stature, low hairline, low-set ears, and webbing of the neck. Gonadal dysfunction resulting in amenorrhoea and sterility is common. [diapedia.org]

  Other features may include deafness, diabetes mellitus, genitourinary abnormalities, short stature, hormonal abnormalities, developmental defects, and speech problems. [mjdrdypu.org]

  […] syndrome; FBCG: Fibrochondrogenesis; OSMED: Otospondylomegaepiphyseal dysplasia; STL: Stickler syndrome, WZS: Weissenbacher-Zweymuller syndrome; AUNA: Auditory neuropathy, autosomal dominant; CMD: Cardiomyopathy dilated: ECTDS: Ectodermal dysplasia/short [centogene.com]

  Purported BS2 cases may be divided into: (1) Bardet-Biedl syndrome with fortuitous coloboma or aniridia, (2) BS2 sensu stricto, a recessively inherited syndrome of sexual infantilism, short stature, coloboma, and preaxial polydactyly without obesity, [updoc.site]

  An autosomal recessive disorder characterized by retinitis pigmentosa; polydactyly; obesity; mental retardation; hypogenitalism; renal dysplasia; and short stature. [icd10data.com]

• Weakness

  We here present a case report of 18 year old male patient presenting in medicine department with weakness of both lower limbs, inability to walk, progressive loss of vision and polydactyly. [ijmedph.org]

  Both forms are associated with muscle weakness and cognitive dysfunction; insulin resistance is increased in both. [diapedia.org]

  There was proximal lower limb weakness (power grading of 4 out of 5). The plantar reflex was exaggerated. [ijdvl.com]

  Motor examination revealed weakness below L2 myotome bilaterally (right side L2-S1: 1/5, left side: 3/5). [ijoonline.com]

  Look at longer term concerns: removal of extra fingers or toes, appropriate shoes for flat feet and weak ankles, possible orthodontia for some dental anomalies. 6. [bardetbiedl.org]

• Weight Gain

  Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. [rarediseases.info.nih.gov]

  Abnormal weight gain begins in early childhood and continues throughout adulthood. As a result, obesity-related diabetes, high blood pressure, and high cholesterol may also develop. [myriad.com]

  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]

• Liver Fibrosis

  You were cystic kidneys and liver fibrosis. You were developmental delays and therapies. You were sensory integration disorder, and then you were autism. You were endless stuttering and endless tantruming. [themighty.com]

  People may also experience a loss of hearing, increased incidence of diabetes, liver fibrosis, and urinary and genital structural malformations. Causes LNMS is most commonly attributed to changes (mutations) in the PNPLA6 gene. [rarediseases.org]

• Hearing Impairment

  One member of family IX had a non-perceptive hearing impairment in one ear. DIABETES MELLITUS The two siblings in family V with hearing impairment and the female sibling in family X had impaired glucose tolerance. The latter had normal hearing. [bjo.bmj.com]

  impairment (1/18), epilepsy (1/18), and multiple pigmented naevi (7/16). [jmg.bmj.com]

  Company Science NGS Panel – Genetic Testing for Non-Syndromic Sensorineural Deafness Isolated deafness, Isolated hearing loss, Nonsyndromic autosomal dominant deafness, Nonsyndromic autosomal recessive deafness, Nonsyndromic hearing impairment, Nonsyndromic [centogene.com]

  It is characterised by cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated cardiomyopathy, insulin resistance syndrome and developmental delay. [blueprintgenetics.com]

• Short Broad Feet

  Most individuals have short, broad feet as well. Obesity may be present by childhood and is usually limited to the trunk of the body. Many individuals are also shorter than average. 14. [geometry.net]

• Night Blindness

  In the family VII, for example, one sibling became simultaneously night blind and visually impaired during daytime, while another sibling had visual problems in daylight first and became night blind later, and the third had developed the symptoms in reverse [bjo.bmj.com]

  Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. [rarediseases.info.nih.gov]

  Night blindness, congenital stationary, type 1G, 616389 GNAT2 Achromatopsia-4, 613856 GNB3 Night blindness, congenital stationary, type 1H, 617024 GNB3 {Hypertension, essential, susceptibility to}, 145500 GNPTG Mucolipidosis III gamma, 252605 GPR143 Nystagmus [qgenomics.com]

  Case Report A 12-year-old boy presented to the pediatric outpatient department with the complaint of night blindness. [mjdrdypu.org]

• Visual Impairment

  In family VII, one sibling showed signs of visual impairment and night blindness simultaneously at the age of 1, another lost night vision at the age of 5 and became visually impaired at the age of 15, and the third was visually impaired at 5 while night [bjo.bmj.com]

  It is an important diagnostic consideration in syndromes with progressive visual impairment or with overgrowth. [scinapse.io]

  RP symptoms progress rapidly and usually lead to severe visual impairment by early adulthood. In addition to RP, polydactyly (extra fingers and/or toes) and obesity are defining characteristics of Bardet-Biedl syndrome. [geometry.net]

  However, it is important to be sure that suspected disabilities (such as delayed speech or reading skills) are not due to underlying visual impairment. [rarediseases.org]

• Visual Impairment

  In family VII, one sibling showed signs of visual impairment and night blindness simultaneously at the age of 1, another lost night vision at the age of 5 and became visually impaired at the age of 15, and the third was visually impaired at 5 while night [bjo.bmj.com]

  It is an important diagnostic consideration in syndromes with progressive visual impairment or with overgrowth. [scinapse.io]

  RP symptoms progress rapidly and usually lead to severe visual impairment by early adulthood. In addition to RP, polydactyly (extra fingers and/or toes) and obesity are defining characteristics of Bardet-Biedl syndrome. [geometry.net]

  However, it is important to be sure that suspected disabilities (such as delayed speech or reading skills) are not due to underlying visual impairment. [rarediseases.org]

• Peripheral Vision Loss

  RP then causes progressive loss of peripheral (side) vision. Peripheral vision loss is often referred to as tunnel vision. Individuals with Bardet-Biedl syndrome also experience central vision loss during childhood or adolescence. [geometry.net]

  This results in phenotypes that include tunnel vision, peripheral vision loss, and blindness. [molvis.org]

• Kidney Failure

  Kidney abnormalities range from a few functional problems to life-threatening kidney failure. [myriad.com]

  It is characterized principally by obesity, retinitis pigmentosa, polydactyly, hypogonadism, and kidney failure in some cases. [1] Historically, slower mental processing has also been considered a principal symptom but is now not regarded as such. [en.wikipedia.org]

  Kidney failure secondary to cystic nephronophthisis or other renal malformations is common. Hypercholesterolemia is found in many patients. Many patients have motor difficulties, appearing clumsy and unsteady. [disorders.eyes.arizona.edu]

  Individuals with significant symptoms related to the eye, kidney, ear, and the gastrointestinal system may be referred to appropriate healthcare professionals The prognosis for Bardet-Biedl Syndrome is typically guarded, particularly if renal failure [dovemed.com]

  During the followup, two children were transplanted for kidney failure at 14 and 16 years of age due to a BBS associated nephropathy. These patients developed progressive renal insufficiency secondary to multicystic dysplastic kidneys. [hindawi.com]

• Renal Function Impairment

  Results Renal abnormalities, including impairment of renal function and signs of chronic interstitial nephropathy of dysplastic nature, were documented in 82% of the patients. [cjasn.asnjournals.org]

• Spastic Paraplegia

  Mental retardation and spastic paraplegia are not considered features of this condition. [diapedia.org]

  This gene is notably associated not only with LNMS but also Boucher-Neuhauser syndrome, Gordon-Holmes syndrome, and spastic paraplegia type 39. These conditions are described in brief under the Related Disorders section. [rarediseases.org]

  paraplegia 39 AR 26 58 SDCCAG8 Bardet-Biedl syndrome, Senior-Loken syndrome AR 14 18 TMEM67 Nephronophthisis, COACH syndrome, Joubert syndrome, Meckel syndrome AR 87 170 TRIM32 Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle AR 13 16 TTC8 Bardet-Biedl [blueprintgenetics.com]

  For the majority of these Tunisian founder mutations, geographic distribution is limited to a region of the country like mutations responsible for congenital muscular dystrophy 1C [Louhichi N, personal communication] and spastic paraplegia 15 encountered [ojrd.biomedcentral.com]

In our patient hypotensive treatment was successful although poor weight control and non-compliance with dietary recommendations hindered the treatment. [termedia.pl]

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]

Debunking an Alleged Treatment on the Internet How do you know if a treatment is legit? There should be preclinical and clinical trial data published in a peer-reviewed journal on research for the treatment. Eye On the Cure Research News All Research [fightingblindness.org]

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]

The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. [rarediseases.info.nih.gov]

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]

The visual prognosis for children with Bardet-Biedl syndrome is poor, progressive loss of visual acuity arised early in the first decade of life. [scielo.br]

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]

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.de]

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]

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

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]

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]

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]

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]

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]