Symptoma

Bardet-Biedl Syndrome Type 5

BBS5

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]

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]

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]

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]

Entry status i Reviewed (UniProtKB/Swiss-Prot) Annotation program Chordata Protein Annotation Program Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

  • 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. [ghr.nlm.nih.gov]

    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]

    gain starting in early childhood and continuing throughout one’s life Abnormal fat distribution in the body, with more fat in chest and abdomen than arms and legs (truncal obesity) Polydactyly or extra finger and/or toe Congenital heart defects Abnormalities [dovemed.com]

  • Crying

    The patient experienced tonic muscle tension of the whole body without convulsion followed by crying. Neurological examination revealed neurodevelopmental retardation and physical sluggishness, without distinct central nervous system focal injuries. [omicsonline.org]

  • Virilization

    Haning RV et al. (1980) Virilism as a late manifestation in the Bardet-Biedl syndrome. [ ] 25. Croft JB et al. (1995) Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome. [ ] 26. [moldiag.com]

  • Progressive Loss of Vision

    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]

  • 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]

  • Learning Difficulties

    Symptoms and Risks Bardet-Biedl syndrome could trigger the following symptoms: Retinal issues such as blind spots, tunnel vision or loss of vision totally Extra finger in hand or toe Obesity Learning difficulties Dental issues Difficulties in feeling [patient-help.com]

    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]

    CONTENTS History Eye signs Obesity Learning difficulties ... Genetic Advice Treatment Rod-Cone dystrophy Polydactyly Obesity Learning difficulties ... [geometry.net]

    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]

  • 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]

    problems -Neurological problems -Hypertension (high blood pressure) -Speech disorders -Dental anomalies (small teeth, small lower jaw, short teeth) -Lack of a sense of smell (anosmia) -Flat, wide feet; no arches -Thyroid problems -Strabismus (“lazy eye [bardetbiedl.org]

    Typical neurological manifestations of BBS include speech and hearing deficits, learning disabilities, behavioral problems, ataxia with poor coordination, gait abnormalities, and spastic motor deficiencies of the limbs. [3] Among them, [1], [3] learning [ijoonline.com]

    Patients with BBS should be premedicated before coming to the operation theater since they have visual impairment and behavioral problems; the mental status of both patients in this report was good and did not necessitate any oral premedication. [sjkdt.org]

  • 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]

  • Convulsions

    The patient experienced tonic muscle tension of the whole body without convulsion followed by crying. Neurological examination revealed neurodevelopmental retardation and physical sluggishness, without distinct central nervous system focal injuries. [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]

  • 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]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. [uniprot.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]

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 Self treatment : Most simple boils can be treated at home. Ideally, the treatment should begin as soon as a boil is noticed. Early treatment may prevent later complications. [livingnaturally.com]

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]

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

(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]

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]

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]

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]

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]

A. 1 May 2017 In : PLoS Genetics. 13, 5, e1006657 Research output : Research - peer-review › Article One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology Argente, J., Chowen, J. A., Pérez-Jurado, L. [portal.sahmriresearch.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 of [news-medical.net]

Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]