Specific Rare Disease Charities

Specific Rare Disease Charities

Please see if there is a charity specific to your disease of interest before contacting us

If there is a rare disease that we are missing, or this table needs updating in any way, please contact us

DiseaseLocationCharityWhat they doWebsite
AcrodermatitisUKCLIMBClimb National Information Centre
for Metabolic Diseases
Addison DiseaseUKAddisons Disease Self Help GroupThe ADSHG is the UK support group for men, women and children diagnosed with Addison's Disease (or adrenal insufficiency).www.Addisons.org.uk
Adie SyndromeUKThe Eye Care TrustRaises awareness of all aspects of eye health and the importance of regular eyecarewww.EyeCareTrust.org.uk
Alagille SyndromeUKThe Childrens Liver Diseases FoundationThe voice for babies, children young people and their families and adults diagnosed in childhood ensuring that childhood liver diseases are understood, prevented and outcomes optimised through excellent research, effective information and emotional support.www.ChildLiverDisease.org
Amyotrophic Lateral SclerosisUSThe ALS AssociationThe Association builds hope and enhances quality of life while aggressively searching for new treatments and a cure.www.ALSAorg
Angelman SyndromeUKThe Angelman Syndrome Support Education & Research Trust.Support, Education and Researchwww.AngelmanUK.org
Arnold-Chiari MalformationUKThe Ann Conroy TrustProvides support and education for those living wih Chiari Malformation, Syringomyelia and associated conditionswww.AnnConroyTrust.org
Arthritis, Juvenile RheumatoidUKThe Childrens Chronic Arthritis Association The leading charity run by parents and professionals to provide a support network for children with Arthritis and their families.www.ccaa.org.uk
Asperger SyndromeUKThe National Autistic SocietyThe leading UK charity for people on the autism spectrum (including Asperger syndrome) and their families.www.Autism.org.uk
Apert syndromeUSAAspert International IncProvides education and information to the general public about Apert Syndrome, and direct financial and emotional assistance, based on need, to families affected by Apert Syndromewww.Apert-International.org
Bardet-Biedl SyndromeUKThe Laurence-Moon-Bardet-Biedl Society The only registered charity supporting people with Laurence-Moon-Bardet-Biedl Syndrome, their families and carers.www.lmbbs.org.uk
Barrett EsophagusUKThe Barrett’s Oesophagus CampaignThe only national charity dedicated to the prevention of cancer from Barrett’s Oesophagus and the support of people living with the disease.Ciick Here
Beckwith-Wiedemann SyndromeUKBeckwith-Wiedemann Syndrome Support GroupAims to promote both public and professional awareness of BWS and to support and encourage research.www.BWS-Support.org.uk
Behcet SyndromeUKBehçet?s syndrome SocietyRepresents Behçet’s disease patients and their carers in the UK. They also exist for those not yet diagnosed with Behçet’s disease and those who think they may have Behçet’s disease.www.Behcets.org.uk
Bloom SyndromeUKBloom's Syndrome Foundation Funds research for the development of a therapy for Bloom's Syndromewww.bloomssyndrome.org
Bowen's Disease
Brachial Plexus NeuropathiesTrauma Brachial Plexus Injury GroupTo supply support and information to adults suffering from TPBI
Brown-Sequard Syndrome
Budd-Chiari Syndrome
Burkitt LymphomaBurkitt's Lymphoma SocietySpreading the word about Burkitt Lymphoma
Carcinoma 256, Walker
Caroli Disease
Charcot-Marie-Tooth DiseaseUKCMTTo offer assistance and support to those people who have Charcot-Marie- Tooth Disease.To promote research into the means by which CMT may be prevented and treated and to circulate the results of such research for the benefit of the public.
Chediak-Higashi Syndrome
Chiari-Frommel Syndrome
Chondrodysplasia Punctata
Colonic Pseudo-ObstructionUKP.O.R.TThe aim of the charity is to fund research into C.I.P.S. and raise public and professional awareness into this serious and sometimes fatal illness
Colorectal Neoplasms, Hereditary Nonpolyposis
Congenital DIaphragmatic Hernia Research, Awareness and SupportUSACHERUBSAn international charity, helping over 5000 families in 60 countries and leading the way in CDH Research, Awareness and Support serviceswww.Cherubs-cdh.org
Congenital Diaphragmatic Hernia UKCDH-UKA support network of other parents and families who had endured similar experiences.www.cdhuk.org.uk
Craniofacial Dysostosis
Creutzfeldt-Jakob SyndromeUKCJD - Support NetworkOffering support to individuals and families concerned with all forms of CJD. Created a national helping to help those with all forms of CJD
Crohn DiseaseUKCrohn's and Colitis UKImproving care and services for those with Crohn Disease
Cushing SyndromeUKCSRFTo help increase awareness and providing local support groups.
Cystic FibrosisUKCystic Fibrosis Trust Creating a world where being born with CF no longer means a life-long struggle, when everyone living with the condition will be able to look forward to a long, healthy life.https://www.cysticfibrosis.org.uk/
Dandy-Walker SyndromeUSA, Australia, Canada Dandy-Walker AllianceProviding support and information to those suffering from the disease and to family members
De Lange SyndromeUKcdLS Foundation Ensuring early and accurate diagnosis of CdLS, promote research into the causes and manifestations of the syndrome and help people with a diagnosis of CdLS to make informed decisions throughout their lifetime.
Dementia, Vascular
Dermatitis HerpetiformisUKCoeliac UKProviding expert and independent information to help people manage their health and diet.
Campaigning for better access to diagnosis and care and better access to food in and out of the home.
Researching the nature of the disease and potential cures.
DiGeorge SyndromeUKMaxAppeal!To help people lead an independent and economically prosperous life as possible with Max Appeal being the voice to achieve appropriate medical care, social support, employment and empowerment for individuals and their families.
Diffuse Cerebral Sclerosis of Schilder
Duane Retraction Syndrome
Dupuytren ContractureUKThe British Dupuytren's Society
Raising awareness, improve knowledge of the treatments available and encourage research into their prevention and treatment.
Ebstein AnomalyEbsteins Society To work towards the eradication of the disease. To promote best treatments worldwide. To provide a place to share information, learn from the experiences of others, and raise awareness. http://www.ebsteins.org/
Eisenmenger ComplexUKdhg-Down's Heart GroupA charity offering support and information relating to heart conditions associated with Down's Syndrome.
Ellis-Van Creveld Syndrome
EncephalitisUKThe Encephalitis SocietyTo help people have access to early diagnosis, excellent management of their condition, timely access to rehabilitation and other forms of social support.
Epidermal Necrolysis, ToxicUKStevens Johnson Syndrome Foundation The purpose of the foundation is to provide the public and medical communities with information on adverse drug reactions. Our goal is to make the public awareso that a quick diagnosis may be made and the offending drug stopped as soon as possible. Also providing emotion support.
Facial Hemiatrophy
Factor XII Deficiency
Familial DysautonomiaUKFD-UKProvides Suppliments and some financial assistance to familieswww.FamilialDysautonomia.co.uk
Familial DysautonomiaUSAThe Dysautonomia Foundation, Inc.Supporting the best possible medical care and scientific research for the benefit of people afflicted with FD. www.FamilialDysautonomia.org
Fanconi AnemiaUKFanconi Hope Charity To support a UK Fanconi Anaemia National Registry so as to ensure Fanconi Anaemia affected children and their families are kept track of and provided with the best care. Promoting awareness and understanding among affected families.
Felty's Syndrome
Fibrous Dysplasia, PolyostoticFibrous Dysplasia FoundationPromote mutual support through support groups. Promoting increased awareness, knowledge and understanding about fibrous dysplasia.
Fox-Fordyce Disease
Friedreich AtaxiaAtaxiaTo support families an people living with Friedrecih Ataxia,
Gardner Syndrome
Gaucher DiseaseUKGauchers Association To provide information about Gaucher disease and keep families and medical advisers up to date with latest research developments.

• To encourage the availability of treatment including enzyme replacement therapy

• To keep families in touch for support

• To actively promote medical research into Gaucher disease.
Gerstmann Syndrome
Gianotti Crosti SyndromeNo Known support groupsPlease let us know if you are aware of a support group
Giant Lymph Node Hyperplasia
Glycogen Storage Disease Type IUKACSD- Association for Glycogen Storage Disease UK The AGSD-UK provides support and help for individuals and families affected by Glycogen Storage Disease (GSD). It does this by putting people in contact, providing information, issuing Newsletters and holding Conferences and Workshopswww.agsd.org.uk
Goldenhar SyndromeUKGoldenhar UKto support families throughout the UK who face the day to day challenges of supporting relatives with Goldenhar Syndrome and related problems,www.goldenhar.org.uk
Guillain-Barre SyndromeUK-IrelandGainOur help is available for everyone, whether you are the patient or close to someone who has been diagnosed.
Hallermann's Syndrome
Hamartoma Syndrome, MultipleUKCowden diseaseWe provide information, advice and support. We bring families together so they can support each other. We campaign to improve their circumstances, and for their right to be included and equal in society.
Hartnup Disease
Hepatolenticular Degeneration
Hereditary Sensory and Motor Neuropathy
Hirschsprung Disease
Histiocytic Necrotizing Lymphadenitis
Histiocytosis, Langerhans-CellUKHistiocytosis UK We fund research & information support to improve the lives of patients & families
Care 157
Hepatolenticular Degeneration
Horner Syndrome
Huntington DiseaseUKHDA- Huntington's Disease Association The Huntington’s Disease Association exists to support people affected by the disease and to provide information and advice to professionals whose task it is to support Huntington’s disease families.
HyperhidrosisHyperhidrosis support group Helping sufferers to get the answers they need
Hyperostosis, Diffuse Idiopathic Skeletal
HypopituitarismUKTHe Pituitary FoundationWe're here for anyone affected by pituitary conditions.

We give support, information and we bring people together.

We provide information to health professionals and we campaign to raise awareness of issues facing pituitary patients, their families and carers
Inappropriate ADH Syndrome
Intestinal Polyps
Isaacs Syndrome
Kartagener Syndrome
Kearns-Sayre Syndrome
Klippel-Feil Syndrome
Klippel-Trenaunay-Weber Syndrome
Kluver-Bucy Syndrome
Korsakoff SyndromeUKYoung Dementia UK To help people who have Korsakoff Syndrome
Lafora DiseaseEpilepsy FoundationTo contact other families with members suffering gaining support from eachother.
Lambert-Eaton Myasthenic Syndrome
Landau-Kleffner Syndrome
Langer-Giedion Syndrome
Leigh Disease
Lesch-Nyhan Syndrome
LkodysGloboid Celleutrophy,
Li-Fraumeni SyndromeUKThe George Pantziarka TP53 TrustOur aim is to provide practical advice and support, create a sense of community among affected families and to promote research of benefit to people suffering from these conditions.
Long QT Syndrome
Machado-Joseph DiseaseMJD Foundation
Mallory-Weiss Syndrome
Marek Disease
Marfan SyndromeUKThe Marfan TrustOur Mission

The Marfan Trust is the only Marfan charity in the UK that funds its own laboratory undertaking medical and analytical research so that more is known about Marfan syndrome and its management. The results of our internationally recognised research enable doctors and surgeons to provide better treatment for patients in the short and long term.
Meckel Diverticulum
Meige Syndrome
Meniere DiseaseMeniere Society We provide support and information to those affected by vestibular disorders and fund vital research into all aspects of these conditions.
Mikulicz' Disease
Miller Fisher Syndrome
Mobius Syndrome
Moyamoya Disease
Mucocutaneous Lymph Node Syndrome
Mucopolysaccharidosis I National MPS Society To raise awareness and provide support
Mucopolysaccharidosis II
Mucopolysaccharidosis III
Mucopolysaccharidosis IV
Mucopolysaccharidosis VI
Multiple Endocrine Neoplasia Type 1Association for Mutiple Endocrine Neoplasia DisordersThe aim of our website is to direct you as quickly as possible to our support services and to information you can trust on MEN1, MEN2, MEN3, MTC (medullary thyroid cancer), FMTC (familial medullary thyroid cancer), adrenal gland tumours (phaeochromocytomas), parathyroid hyperplasia, paragangliomas, FIPA (familial isolated pituitary adenoma) and SDHx (succinate dehydrogenase) disorders.
Munchausen Syndrome by Proxy
Muscular Atrophy, SpinalUkSpinal Muscular Atrophy Support UKWe are an established charity that supports and empowers anyone affected by Spinal Muscular Atrophy. We are advocates for better services, raise public awareness and fund research related initiatives.
NarcolepsyUKNarcolepsy UKSupporting people with narcolepsy, their families, carers and others interested in improving their quality of life
Neuroaxonal Dystrophies
Neuromyelitis Optica
Neuronal Ceroid-LipofuscinosesUKNMO-UK a charity that will both support sufferers and raise awareness of this terrible disease.
Niemann-Pick DiseasesUKNiemann Pick Patients UKTo provide care, support and advice

To listen and to answer your questions

To raise awareness and enable research

To provide HOPE for the future
Noonan SyndromeUKNoonan Sydrome Association Support families and groups as well as funding medical research.
Opti Hereditary c Atrophies,
Osteitis Deformans
OsteochondritisUKThe Perthes Association Helping children with Osteochondritis PERTHES ASSOCIATION
Osteolysis, Essential
Tay-Sachs DiseaseUSACure Tay Sachs FoundationDedicated to funding the research projects that provide HOPE for developing a treatment and/or cure for Tay-Sachs diseasewww.CureTay-Sachs.org
Tay-Sachs DiseaseUKCATSThe charity provides a support network, respite trips and vital equipment so that a sufferers quality of life is as high as possible. The CATS Foundation also provides funding to the research team investigating a potential treatment for both Tay-Sachs and Sandhoff disease.www.Cats-Foundation.org

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