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Ce N T R E F O R R a R E D I S O R D E University Hospital Centre for Rare Disorders A CENTRE TO TURN TO KNOWLEDGE BASE BRIDGING THE GAP Centre for Rare Disorders is an Regional health services generally have interdisciplinary, nationwide competence little knowledge regarding rare disorders. centre, which offers information, As a result, competence transfer and counselling and seminars on a selected information meetings held in the patients’ range of rare disorders. The service is local area are fundamental to our centre’s aimed at the appropriate patients and their activities. We strive to ensure that the families, and at professionals working with transition from one stage of life to the next these disorders. Anyone may contact the is planned well in advance, so that centre, and a referral or advance necessary adjustments can be appointment is not required. implemented. INFORMATION PATIENT PARTICIPATION The centre obtains and coordinates Centre for Rare Disorders collaborates with specialist knowledge on, and experience patients, their families and relevant patient with, designated rare disorders . organisations. The centre has a Centre This information is distributed via Council where patients, represented by the counselling, seminar activities, information patient organisations, and professionals booklets, videos and the Internet. make suggestions for the organisational developmentdevelopment of the centre.centre. COUNSELLING CentreCentre forfor RareRare DisordersDisorders offoffersers counsellingcounselling RESEARCH AND DEVELOPMENT and guidanceguidance toto patientspatients and their families Research and development activities at the and to professionals via: centre are run through collaboration - phone and e-mail enquiries between patient organisations and - meetings at the centre or at specialist environments at home and the treating hospital abroad. New international research and - meetings in the patient’spatient’s locallocal results from our centre’s projects are area and/or home environment reported to patients and relevant specialists. SEMINARS Centre for Rare Disorders arranges The centre is a national undertaking and seminars for patients, their families and works on behalf of the Norwegian professionals. The seminars normally last Directorate for Health Affairs. from 1 to 5 days, and are held at various The centre is a division of Rikshospitalet locations throughout the country. They University . offeroffer medical informationinformation rrelatedelated toto certaincertain specificspecific diagnoses,diagnoses, and also addraddressess moremore Links to Nordic diagnoses descriptions and general issues, such as everyday life in contact information can be found at kindergarten/atkindergarten/at school/atschool/at work,work, nutrition,nutrition, www.rarelink.no. If you need information physicalphysical activities,activities, nationalnational health benefits,benefits, on rare disorders, please call the service rights and privileges. An important phone number 800 41 710 of the elementelement of these seminars is the sharingsharing of Norwegian Directorate for Health Affairs. experience. DIAGNOSES Congenital haemophilia Congenital anomalies Afibrinogenemia Anorectal anomalies Haemophilia A + B Anal atresia Owren’s disease Currarino triad Factor VII deficiency Bladder exstrophy/epispadias von Willebrand’s disease Genital anomalies Hereditary hemorrhagic telangiectasia (HHT) Adrenogenital syndrome (AGS), (CAH) Primary immunodeficiencies Hermaphroditism – Pseudoherma- Hypogammaglobulinemia phroditism X-linked agammaglobulinemia Complete androgen insensitivity CVID – Common Variable Immuno Deficiency syndrome (CAIS) IgG subclass deficiency Partial androgen insensitivity Selective IgA deficiency syndrome (PAIS) Hyper-IgM syndrome Scrotal hypospadia T-cell disease and combined B- and T-cell disorders Oesophagus atresia SCID - Severe combined immunodeficiency Cranofacial anomalies Wiskott-Aldrich syndrom Syndromatic craniosynostosis Phagocytic deficiencies Apert syndrome Chronic granulomatous disease (CGD) Crouzon syndrome Interferon-gamma-receptor deficiency Pfeiffer syndrome (INFGR) Sæthre-Chotzen syndrome Leukocyte adhesion deficiency LAD Muenke syndrome Neutropenia Others Complement deficiencies Treacher Collins syndrome Immunodeficiency associated with other syndromes Hemifacial microsomia/ Hyper-IgE syndrome (OAVS)/Goldenhar Chronic mucocutaneous candidiasis CMC Choanal atresia Autoimmune polyendocrinopathy- Cleidocranial dysplasia candidiasis-ectodermal dystrophy (APECED) Microtia, anotia Ivemark syndrome Cherubism X-linked lymphoproliferative syndrome Pierre Robin (Duncan’s disease) Freeman Sheldon Spectrum/ Congenital skin diseases Whistling Face Epidermolysis bullosa (EB) Trigonocefali Ectodermal dysplasia (ED) Congenital liver diseases Greither’s syndrome Aagenaes syndrome Hydroa vacciniforme Alagille syndrome Ichthyosis Extrahepatic biliary atresia Incontinentia pigmenti Inborn errors of metabolism Keratosis PKU – Phenylketonuria (Folling disease) Netherton syndrome Galactosaemia Pachyonychia congenital MSUD – Maple Syrup Urine Disease Other Methylmalonic acidemia Mastocytosis Propionic acidemia Hereditary eye and central nervous system Alport syndrome disorders Fabry disease Laurence-Moon-Bardet-Biedl syndrome (LMBB) LCAT deficiency (Norum disease) Huntington’s disease Congenital thrombocytopenia Aniridia CENTRE FOR RARE DISORDER S Rikshospitalet 0027 Oslo, Norway Telephone +47 23 07 53 40 Telefax +47 23 07 53 50 email: [email protected] www.rikshospitalet.no/sjeldnediagnoser.
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