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El síndrome de Bardet-Biedl (SBB) es una enfermedad genética multisistémica poco frecuente en población caucásica (está estimada 1/150.000), caracterizada por una pronunciada variabilidad fenotípica y una gran heterogeneidad genética. Pertenece al grupo de las ciliopatías, causadas por defectos en la estructura y/o función ciliar. El trastorno se trasmite principalmente de manera autosómica recesiva pero se ha detectado herencia oligogénica en algunos casos. Hasta ahora, se han identificado mutaciones en 24 genes diferentes. Este trastorno está caracterizado por una combinación de síntomas clínicos: obesidad, retinopatía pigmentaria, polidactilia post-axial, riñones poliquísticos, hipogenitalismo y trastornos de aprendizaje, muchos de los cuales aparecen muchos años después de la aparición de la enfermedad. La expresión clínica es variable pero muchos de los pacientes manifiestan la mayoría de los síntomas clínicos durante el curso de enfermedad. La retinopatía pigmentaria es el único síntoma clínico constante después la infancia. El SBB puede también estar asociado con otras manifestaciones graves incluida diabetes, hipertensión, cardiopatía congénita y enfermedad de Hirschsprung . El amplio espectro clínico observado en el SBB está asociado a una significativa heterogeneidad genética. Contactador

Bardet-Biedl CLINICAL REGISTRY Clinical REGISTRY INVESTIGATING CRIBBS (For english speakers) ​ Because BBS is relatively rare and individuals with the disease are spread out across the world, no single medical center has the expertise to fully address the needs of individuals with BBS or to develop much needed new treatments. CRIBBS serves as a valuable tool to learn more about BBS and its impact on the health of a person. Information gathered in CRIBBS will be used to help families better understand the condition, to help healthcare providers provide timely preventative and comprehensive care, and to foster scientific efforts in understanding this complex disorder. ​ ​ ​ ​ Frequently Asked Questions : Why is a BBS registry important ? Bardet-Biedl Syndrome (BBS) is thought to affect approximately 2,500 people in the United States. Because BBS is relatively rare and individuals with the disease are spread out across the world, no single medical center has the expertise to fully address the needs of individuals with BBS or to develop much needed new treatments. CRIBBS serves as a valuable tool to learn more about BBS and its impact on the health of a person. Information gathered in CRIBBS will be used to help families better understand the condition, to help healthcare providers provide timely preventative and comprehensive care, and to foster scientific efforts in understanding this complex disorder. ​ How do I register for CRIBBS ? Clicking on this registration link will bring you to the registration page. You will be asked several simple questions so that we can contact you. We will not request confidential information such as social security numbers or driver’s license numbers. ​ What information will I have to provide to participate in CRIBBS ? Bardet-Biedl Syndrome (BBS) affects each person differently. To better understand how BBS affects you specifically, a member of our team will conduct a telephone interview that takes 90 to 120 minutes. In addition, we will ask you to complete two written assessment forms at your leisure. We will also ask you to sign medical release forms that allow us to obtain medical records from your healthcare providers. We will not ask for confidential information such as social security numbers or driver’s license numbers. ​ Who can see my information ? Your privacy is important to us. Your health information will be assigned a study number that will replace any information that may identify you. Medical records will be stored in a secured location and only individuals directly involved in CRIBBS will have access your information. Your information will not be shared with private organizations, such as insurance companies. Information will be compiled using the study identification numbers and shared with researchers and scientists trying to better understand BBS. ​ How often will the CRIBBS research staff contact me ? One important purpose of the registry is to monitor the ongoing health of individuals with BBS over time. As such, we will contact you annually to get an update on your health. In addition, you will be asked to repeat the two written assessments completed upon CRIBBS enrollment and we will contact your healthcare providers to obtain updated health records. If at any time, you wish to withdraw participation from CRIBBS, you are free to do so and you will no longer be contacted by CRIBBS staff. ​ Will I be contacted about participating in research studies ? Yes, we will alert you if researchers are seeking volunteers for research studies. We will not give your name or contact information to the researcher, but we will provide you the contact information for the researcher and provide you a brief summary of the study. ​ How does participation in CRIBBS help me or my child ? Participation in CRIBBS will help us learn more about the many ways BBS impacts the life and health of individuals. We will share this information through publications for the public and in professional journals. We believe that such knowledge will spark the interest of scientists, private industry, and government agencies to foster high quality care and the development of new and effective treatment strategies for individuals with BBS. ​ Comment référer mon enfant/moi-même à la clinique BBS ? En cliquant sur ce lien , vous accéderez au questionnaire de référencement. Veuillez télécopier le 715-387-5244, envoyer un courriel ( suda.sonia@marshfieldclinic.org ) ou envoyer le formulaire dûment rempli à : Sonia Suda 1000 N Oak Ave - GR3 Marshfield, WI 54449 ​ ​ ​ ​ PARTICIPATE IN THE COHORT PARTICIPATE IN THE COHORT COBBALT COhorte Bardet-Biedl et Alström Translationnelle (In France) ​ The principle is to collect clinical data from as many patients as possible in order to better understand the natural history of the disease in its most classic manifestations (vision, weight, renal function) but also to be able to identify rarer or even unknown manifestations. A quality of life study is also being carried out as well as the collection of biological samples for research purposes. ​ The promotion of the study is under the responsibility of the University Hospital of Strasbourg and the principal investigator is Pr Hélène Dollfus. The collection of consent for the study (signature for participation) must be done on site (for the moment, a compulsory visit to Strasbourg), but afterwards the data over 5 years can be collected remotely. This study is very important because it will allow to identify the criteria on which future clinical trials can be based and also to identify more precisely the known or still poorly known characteristics of the disease and also the needs of the patients. The team of the University Hospital of Strasbourg is counting on the participation of all and awaits your call at 06 35 34 09 00 or 03 69 55 19 62 or your message at cobbalt@chru-strasbourg.fr or nathalie.goetz@chru-strasbourg.fr in order to inform you at best. Reference Centre for Rare Diseases in Ophthalmological Genetics CARGO - IGMA1, Place de l'Hôpital 67091 STRASBOURG Cedex. ​ FOR MORE INFORMATION CONTACT US

Bardet-Biedls Syndrom (BBS) kännetecknas av en kombination av synnedsättning, övervikt, extra fingrar och/eller tår, små könsorgan, nedsatt njurfunktion och inlärningssvårigheter. Andra symtom förekommer också. ​ Bardet-Biedls syndrom ingår i en grupp sjukdomar som kallas ciliopatier och orsakas av en skada i de primära cilierna. En primär cilie är ett orörligt utskott, ett slags antenn på cellytan som samordnar många funktioner som är av betydelse för cellfunktioner som rörelse, syn, känsel och cellsignalering. Störd ciliefunktion kan leda till avvikelser i fosterutvecklingen och ge missbildningar i många olika organ. Hos ungefär 80 procent av alla med Bardet-Biedls syndrom har det varit möjligt att påvisa en sjukdomsframkallande mutation. De vanligaste mutationerna finns i BBS1 (23 procent), BBS2 (8 procent) och BBS10 (20 procent). ​ Hittills (2022) finns mutationer rapporterade i 24 olika gener, som alla är inblandade i tillverkning eller reglering av proteiner som är av betydelse för normal cilieformation och funktion. ​ Kontakta oss

Establishment of an expert panel for BBS led by 3 doctors (Helen May-Simera, Carsten Bergmann, Metin Cetiner) : An expert committee is being set up from various doctors and representatives of the patient group in order to coordinate current research aspects for BBS in Germany. In addition to 2 representatives of the patient group, a nephrologist, a human geneticist, an ophthalmologist and a microbiologist are represented in this committee. ​ Research for the immune system with BBS led by doctor Wartsen : At the end of 2021, a new research project was launched at the University Hospital in Bonn to investigate the thesis that BBS sufferers have a stronger immune system than non-affected people and as a result are less susceptible to everyday illnesses such as flu. In May 2022, this research project will be presented to the BBS Germany patient group at a Zoom meeting. ​ Neocyst Project : NEOCYST is a research project on cystic kidney disease in children. It is implemented by a network of clinicians, geneticists and scientists. The project is funded by the Federal Ministry of Education and Research (BMBF) and supported by the Society for Paediatric Nephrology (GPN). ​ The NEOCYST study aims to gain a better understanding of cystic kidney disease and Bardet-Biedl syndrome. The knowledge gained should be used to improve : Targeted diagnosis, sound advice and and lead to the development of future therapeutic approaches. Opportunities for participation Patients of all ages who have been diagnosed with BBS can participate. Participation in the project is based on a detailed questionnaire. The questionnaire is to be filled in by the treating physician. Patient data are stored and collected in a pseudonymised form, so that no conclusions can be drawn about the individual person. ​ NEOCYST contact for interested parties Dr. Metin Cetiner, University Hospital Essen Hufelandstraße 55, 45147 Essen Mail: Metin.Cetiner@uk-essen.de

связаться с нами Для этого заболевания характерна ассоциация с ожирением, пигментным ретинитом, постаксиальной полидактилией, поликистозом почек, гипогенитализмом и трудностями в обучении, которые обычно возникают через несколько лет после начала заболевания. Клиническая картина может быть различной, хотя у многих пациентов в течение болезни проявляются почти все признаки. Пигментный ретинит является единственным постоянным признаком после детского возраста. BBS также связан с другими тяжелыми признаками, включая диабет, гипертонию, врожденные пороки сердца и болезнь Гиршпрунга. ​ Синдром Барде-Бидля (СББ) описан на сайте :https://www.gsdinternational.com/ru/conditions/bardet-biedl-syndrome-bbs ​

​ Das Bardet-Biedl-Syndrom (BBS) ist eine seltene genetisch bedingte Erkrankung, bei der verschiedene Symptome in unterschiedlicher Ausprägung auftreten können. Zu den Hauptsymptomen zählen: Netzhautdystrophien Übergewicht Überzählige Finger und / oder Zehen Nierenerkrankungen Entwicklungsverzögerung Unterentwicklung der Geschlechtsorgane Das Bardet-Biedl-Syndrom wird autosomal rezessiv vererbt. Nähere Informationen zum Bardet-Biedl-Syndrom sowie zu den Aktivitäten der BBS-Gruppe finden Sie hier ​ Uns kontaktieren

Contacto A síndrome de Bardet- Biedl, caracteriza-se pela associação de défice visual progressivo, obesidade, polidactilia, problemas renais, hipogenitalismo nos homens e anomalias genito-urinárias na mulher e dificuldades de aprendizagem. Transmite-se de forma autossómica recessiva e foram identificados 24 genes associados a BBS, mas em cerca de 20% a causa ainda é desconhecida. Estima-se uma prevalência de 1/150.000. As manifestações mais frequentes são: Retinite pigmentar de tipo cone e bastonete (>90%). Esta alteração pode não ser identificável até por volta dos 8 anos, quando se inicia diminuição da visão nocturna; aos 20 anos 75% dos doentes perderam completamente a visão. Polidactilia postaxial (dedo supranumerário na metade externa das mãos e /ou pés) ocorre em cerca de 80%. Obesidade (90%) inicia-se na infância e é essencialmente do tronco. Ao nascer o peso é habitualmente normal. Não controlada, podem surgir outros problemas associados: diabetes, hipertensão, hiperlipidemia. Dificuldades de aprendizagem são frequentes (60%), embora na maioria não exista um défice cognitivo significativo. Défice de atenção, processamento lento e traços obsessivos, compulsivos são comuns. Anomalias genitais (60-90%). No sexo masculino manifesta-se por hipogonadismo com pénis e testículos pequenos, criptorquidia, ausência de caracteres sexuais secundários, atraso pubertário, infertilidade. No sexo feminino podem existir malformações genito-urinárias como ausência ou hipoplasia da vagina, útero, trompas, ovários, imperfuração vaginal, fistulas….e também atraso pubertário, amenorreia, diminuição da fertilidade, mas há casos de gravidez Alterações renais (displasia, doença quística…) ocorrem em 50 a 70% dos casos e podem conduzir a falência renal. Foi sugerido como critério de diagnóstico clínico de BBS a presença de 4 das manifestações acima referidas ou 3 delas e mais duas das seguintes: cardiopatia, diabetes, alterações dentárias, hepáticas, intestinais (hirshprung), anosmia (ausência de cheiro),braquidactilia/sindactilia (dedos curtos/unidos), descoordenação motora/ ataxia, atraso global de desenvolvimento, atraso da linguagem