Genetic Conditions & Support Groups
Please note that this is a list of both support groups and genetic conditions. We have people on our Contact Registry who are looking for other people affected by the same condition. In many cases, AGSA is the initial point of contact. Conditions are in italics, support groups are in bold.
If you cannot find your condition here, or you would like to add a support group to the list, please contact AGSA directly. If you know of a change of contact details for a support group listed here, please contact AGSA so that we can update the website. Please note that some support groups are listed with the prefix 'Australian'. You may also want to try searching the site using the search option.
a
- Aarskog syndrome
- Achondroplasia
- Acid Maltase Deficiency
- Acoustic Neuroma
- Acrocallosal syndrome
- ACT Muscular Dystrophy Association Inc.
- Adams Oliver syndrome
- Adrenoleukodystrophy
- Ageing Disability and Homecare Department
- Aicardi syndrome
- Alagille syndrome
- Alagille Syndrome Support Group
- Albinism
- Albino Support Group
- Alkaptonuria
- Alpha l Antitrypsin Deficiency
- Australian Alpha1 Association (A1AD)
- Alpha Manniosidosis
- Alpha Thalassaemia X-Linked Mental Retardation
- Alport syndrome
- Alstroms syndrome
- Alzheimer's Assoc of Australia Inc.
- Amyotrophic Lateral Sclerosis
- Androgen Insensitivity
- Androgen Insensitivity Syndrome (AIS) Support Group
- Angelman syndrome
- Angelman Syndrome Association
- Aniridia
- Aniridia Network
- Anticardiolipin AB Type
- Antiphospholipid syndrome
- Ankylosing Spondylitis
- Apert syndrome
- Argininosuccinic Aciduria & Citrullinaemia
- Aspergers syndrome
- Association for Children With a Disability, Vic.
- Association for the Welfare of Child Health (AWCH)
- AUSSIE FOLKS
- Australian Addison's Disease Assoc. Inc
- Australian Arthrogryposis Group (TAAG)
- Australian CHARGE Association
- Australian Crohn's and Colitis Association (ACCA)
- Australian Cystinosis Support Group
- Australian Foundation of Ectodermal Dysplasia
- Aust. Huntington's Disease Association (Qld) Inc.
- Aust. Huntington's Disease Assoc. (NSW) Inc.
- Australian Leukodystrophy Support Group Inc. (ALDS)
- Australian Primary Immune Deficiencies Association (A.P.I.A.)
- Australian Primary Immune-deficiency Network Ltd. (APIN)
- Australian Speak East Association.
- Australian Sturge-Weber Support Group
- Australasian Tuberous Sclerosis Society Inc
- Australian Thyroid Foundation
- Aust. Society for Ectodermal Dysplasia
- Autistic Assoc. of NSW
- Ataxia -hereditary
b
- Baller-Gerold syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Bardet-Biedl Society
- Bartter syndrome
- Batten Disease
- Batten’s Disease Support & Research Foundation
- Beckwith-Wiedemann syndrome
- Beckwith-Weidemann Syndrome Support Group
- Behr syndrome
- Berardinelli syndrome
- Bilateral Iris Coloboma
- Bloom syndrome
- Blount's Disease
- Borjeson-Forssman-Lehmann syndrome
- Bowel Group for Kids
- BPES
- Brown syndrome
- Bunyip Special Needs Group Inc.
c
- Caffeys familial neurovisceral lipidosis
- Caffeys generalized gangliosidosis
- Caffeys Pseudo-Hurler syndrome
- Camptomelic Dysplasia
- Canavans Disease
- Cardio facial cutaneous syndrome
- Cardiomyopathy
- Cardiomyopathy Association of Australia Ltd.
- Caroli syndrome
- Carpal-tarsal osteolysis
- Carpenter syndrome
- Centacare Early Intervention
- Central Core Disease
- Centre for Developmental Disabilities
- Cerebellum Hypoplasia
- Charcot-Marie-Tooth Disease
- Charcot-Marie Tooth Association of Australia
- Charcot Marie-Tooth Disease, USA
- CHARGE Association
- Child & Family Health Centre
- Child Health Information Centre
- Chondrodysplasia
- Chronic Granulomatous disease
- Chromosome 18 abnormalities
- Chromosome 18 Registry & Research Society (Aust), The
- Chromosome Disorders - rare
- Cleft Pals, The Cleft Palate & Lip Society
- Cleidocranial dysplasia
- CLIMB Children Living with Inherited Metabolic Diseases
- Cobalamin E, C/G deficiency
- Cockayne syndrome
- Coeliac Society of NSW Inc.
- Coffin-Lowry syndrome
- Coffin-Siris syndrome
- Cohen syndrome
- Combined Immune deficiency disease
- Community Resource Team (Albury)
- Congenital Adrenal Hyperplasia
- Congenital Adrenal Hyperplasia (CAH) Support Group
- Congenital Alopecia Totalis
- Congenital Anodontia
- Congenital Cone dystrophy
- Congenital Disorder of Glycosylation
- Congenital Myotonic Dystrophy
- Congenital Protein C Deficiency
- Congenital Prune Belly syndrome
- CONTACT A FAMILY, U.K.
- Cooleys Anaemia - Thalassaemia
- Cornelia-de Lange syndrome
- Cornelia de Lange Syndrome Australasia Association (CdLS)
- Corticobasal degeneration
- Costello syndrome
- Craniosynostosis syndrome
- Creutzfeldt Jacob Disease
- Cri-du-chat syndrome
- Cri Du Chat Support Group of Australia
- Crouzon syndrome
- Cushing syndrome
- CVS Support Group (WA)
- Cyclical Vomiting syndrome
- Cystic Fibrosis Assoc. of Vic
- Cystic Fibrosis Foundation, North Ryde.
- Cystinuria
- Cytochrome C. Oxidase Deficiency
d
- Dandy-Walker Malformation
- Darling Point Special School
- De Barsy syndrome
- Dejerine-Sottas disease
- Depressive & Manic Depressive Assoc.
- Desbuquois syndrome
- Developmental Verbal Dyspraxia
- DIAL (Qld)
- Diastematomyelia
- Drash syndrome
- Donor Conception Support Group
- Double Y syndrome
- Duane syndrome
- Dubowitz syndrome
- D2 Hydroxyglutaric acidurdia
- Dysautonomia
- Dyschondrosteosis
- Dystrophic Epidermolysis Bullosa Research Association (DEBRA) NSW. Inc.
e
- Early Education Clinic, North Sydney
- Early Learning Tasmania
- Ebsteins Anomaly of the Tricupsid Valve
- Ectodermal dysplasia
- Ectodermal Dysplasia, Society of
- Ectrodactyly
- Ehlers-Danlos syndrome
- Ehlers-Danlos Syndrome Support Group
- Ellis-Van Creveld syndrome
- Emery Dreifuss Muscular Dystrophy
- Encephalocraniocutaneous Lipomatosis
- Epidermal Nevus syndrome
- Dystropic Epidermolysis Bullosa Research Assocation (DEBRA) NSW Inc.
- Erythropoietic protoporphyria
- Exceptional Parent (USA)
f
- Fabrys Disease
- Fabry's Support Group Inc.
- Facial Haemangioma
- Facial Paralysis / Moebius Syndrome
- Factor V Leiden
- Familial adenomatous polyposis coli
- Familial Hiberian Fever
- Familial Mediterranean Fever
- Familial Spastic Paraparesos
- Families of Children with a Disability Support Group (FOCDSG)
- Family Planning Association
- Fanconi Anaemia
- FAP Register (NSW Cancer Council)
- Farber Lipogranulomatosis
- Fazio-Londes syndrome
- FG syndrome
- Fibrodysplasia Ossificans
- Fish Odor syndrome
- Fibromyalgia hermaphroditism
- 48, XXXY
- 48, XXYY
- 49, XXXXY
- Fragile X Alliance Inc.
- Fragile X Association of Australia
- Fragile X syndrome
- FRANS
- Fraser syndrome
- Friedreich's Ataxia
- Friedreich Ataxia Association of NSW
- Frontonasal Dysplasia
- Fryns syndrome
- Fukuyama syndrome
g
- Galactosaemia
- Gardner syndrome
- Gaucher Disease
- Gaucher Association of Australia
- Genetic Alliance, (USA)
- Genzyme Australia Pty. Ltd.
- Genetic Interest Group (GIG) (UK)
- Gitelman sydnrome
- Glucose 6 Phosphaate Dehydrogenase (G6PD) deficiency
- Glucosidosis Enzyme deficiency
- Glycogen Storage Diseases
- GM1 Ganliosidosis
- Goldenhar syndrome
- Gorllin syndrome
- Goltz syndrome
- Graves Disease
h
- Haemochromatosis
- Haemochromatosis Information Service & Support Group QLD
- Haemophilia Foundation NSW
- Hailey-Hailey Disease
- Hajdu-Cheney syndrome
- Hallermann-Streiff syndrome
- Hallervorden-Spatz Disease
- Hartnup Disease
- Hastings Early Intervention - Coffs Harbour
- Hemihypertrophy
- Hemimegalencephaly
- Hereditary Angioneurotic Edema
- Hereditary Fructose Intolerance
- Hereditary Fructose Intolerance
- Hereditary Haemorrhagic Telangiectasia (Rendu Osler Weber syndrome)
- Hereditary Haemorrhagic Telangiectasia
- Hereditary Multiple Exostoses
- Hereditary Spastic Paraplegia
- Hereditary Spherocytosis
- Holt Oram syndrome
- Holoprosencephaly
- Homocystinuria
- Homolateral Brain syndrome
- Hunter Orthopaedia School
- Hunter syndrome
- Huntington Disease
- Hydranencephaly
- Hydronephrosis
- Hyperargininaemia
- Hyper IGE syndrome
- Hypertrophic Cardiomyopathy
- Hypoadrenal Hyperthyroidism
- Hypomelanosis of Ito
- Hypophosphatemic Bone Disease (HBD)
- Hypopituitarism
- Hypoplastic left heart syndrome
- Hypoplastic Primary Vitreous
- Hypotension Orthostatic
- Hypothyroidism
HSP Research Foundation
i
- I.D.E.A.S. Inc
- Idiopathic pulmonary fibrosis
- Idiopathic thrombocytopenic purpura
- Immotile Cilia syndrome
- Immune deficiency disorders
- Incontinentia Pigmenti
- Ivermark syndrome
j
k
- Kabuki Make-up syndrome
- Kallmann syndrome
- Kawasaki syndrome
- Kearns Sayre syndrome
- Keratosis follicularis spinulosa decalvans
- Kidney Kids Support Groups, NZ
- Kidney Support Network of QLD
- Klinefelter syndrome (47,XXY)
- Klinefelter Syndrome Support Group
- Klippel-Feil syndrome
- Klippel Trenaunay Weber syndrome
- Krabbe Disease
- KU Children's Services
- Kurrajong Early Intervention
- Kyphomelic Dysplasia
l
- Landau-Kleffner syndrome
- Langer-Giedion syndrome
- Larsen syndrome
- Laurence-Moon-Biedl
- Lebers Optic Atrophy
- Leigh Disease
- Leighs Disease Support Group
- Leopard syndrome
- Leri-Weill syndrome
- Lesch Nyhan syndrome
- Leukodystrophy
- Leukodystrophy Foundation (USA)
- Li Fraumeni
- Lissencephaly
- Limb Girdle Muscular dystrophy
- Lipodystrophy & Brown's syndrome
- Lisscencephaly
- Long-chain-3-hydroxyacyl coenzyme A dehydrogenase deficiency
- Long QT syndrome
- Lowe syndrome
- Lowe’s Syndrome Association Inc. (USA)
- Lower North Shore Community Support Team
- Lujan-Fryns syndorme
- Lupus Association of NSW Inc.
- Lymphangioleiomyomatosis Australia
- Lymphas Genphasia
- Lymphoedema Association of Victoria Inc.
- Lysosomal Storage Disorders
- Lysosomal Storage Disorders
m
- Machado Joseph syndrome
- Maple Syrup Urine Disease
- Marfan syndrome
- Marfan Association
- Marfan Syndrome Support Assoc. NSW
- Maternity Alliance
- Megalocornea Mental Retardation
- MELAS syndrome
- Meniere’s (NSW) Support Group
- Menke syndrome
- Metabolic Dietary Disorders Association (MDDA)
- Metachondromatosis
- Methylmalonic acidemia
- Microcephaly
- Miller-Dieker syndrome
- Minicore disease
- Mitochondrial Myopathies
- Moebius syndrome
- Monosomy 9p
- Mowat Wilson syndrome
- Motor Neurone Disease
- Motor Neurone Disease Association
- Mucopolysaccharide & Related Diseases Society Aust (MPS)
- Mucopolysaccharidosis
- Mullerian Duct Agenesis
- Multiple Endocrine Neoplasia 2a
- Multiple Endocrine Neoplasia 2B
- Multiple Epiphyseal Dysplasia
- Multiple Epiphyseal Dysplasia Association.
- Multiple Exostoses
- Muscular Dystrophy Association (MDA)
- Muscular Dystrophy Association (NZ) Inc.
- Muscular Dystrophy Association of NSW
- Muscular Dystrophy & Facioscapulohumeral Dystrophy
- Myasthenia Gravis
- Myotonic dystrophy
- Myotubular Myopathy
n
- Nager & Miller syndrome
- Nail Patella syndrome
- Narcolepsy
- National Council of Intellectual Disability
- Netherton syndrome
- Neuroaxonal Dystrophia
- Neurofibromatosis
- Neurofibromatosis Association.
- Neuronal Intestinal Dysplasia
- NSW Council of Social Services (NCOSS)
- NSW Cancer Council
- New Zealand Organisations for Rare Diseases
- NIDKIDS Support Group Ltd
- Niemann-Pick Disease
- Nonketotic Hyperglycinaemia
- Noonan syndrome
- Noonan Syndrome Support Group
- Norrie syndrome
- Northcott Society, The
- Nystagmus
o
- Oculo-dento-digital syndrome
- Ohdo syndrome
- Olivo-Ponto-Cerebellar-Atrophy
- Olliers Disease
- Ophthalmia: Anophthalmia & Microphthalmia
- Opitz Fg syndrome
- Opitz trigonocephaly
- Oral-Facial-Digital syndrome
- Organic acidemia
- Ornithone transcarbamylase deficiency
- Osteogenesis Imperfecta
- Osteogenesis Imperfecta of Aust.
- Osteopetrosis
- Osteopetrosis Support Group
p
- Paget disease
- Pallister-Hall syndrome
- Pallister-Fillian syndrome
- Parent Support Program
- Parent to Parent (NZ)
- Parent To Parent Gippsland
- Paroxysmal Kinesigenic choreoathetosis
- Paroxysmal Nocturnal Haemoglobinuna
- Partington syndrome
- Peho syndrome
- Pelizaeus-Merzbacher Disease
- Pena-Shokeir syndrome type1
- Pendred syndrome
- Peripheral Neuropathy (CMT TypeII)
- Perthes syndrome
- Peutz-Jeghers syndrome
- Phenylketonuria (PKU)
- Picks Disease
- Pierre Robin syndrome
- Pierre Robin Sequence
- PKU Assoc of NSW
- Poland syndrome
- Polyostic Fibrous Dysplasia
- Polycystic Kidney Disease Association
- Pompe disease
- Potter syndrome
- Popliteal Pterygium syndrome
- Prader-Willi syndrome
- Prader-Willi Syndrome Association
- Primary Immune Deficiency
- Progressive Myoclonic Epilepsy
- Progressive Supranuclear Palsy
- Proteus syndrome
- Pseudohypoparathyroidism
- Pseudohypoparathyroidism Support Group
- Pseudoxanthoma Elasticum (PXE)
- Pseudoxanthoma Elasticum Support Group
- PXE Support Group
- Pycnodysostosis
- Pyridoxine dependency
- Pyruvate dehydrogenase deficiency
- Pyruvatekinase deficiency
- Pyruvate dehydrogenase deficiency
r
- Rare Chromosomes Disorders(dupliciations, deletions, inversions, tetrasomies, mosaics, translocations, ring)
- Rare Chromosomes Disorders Support Group
- Raynaud disease
- Reflex sympathetic dystrophy syndrome
- Refsum disease
- Reinfenstein syndrome
- Retina Australia (NSW) Inc.
- Retina Australia (Vic) Inc.
- Retinitis Pigmentosis
- Rett syndrome
- Rett Syndrome Association of Australia
- Richardson-Steele-Oblizewski syndrome
- Royal Blind Society of NSW
- Russel-Silver syndrome
- Rubinstein-Taybi syndrome
s
- Saethre-Chotzen syndrome
- SAFDA Support After Foetal Diagnosis of Abnormality
- Sandhoffs disease
- SANDS Support After Neonatal Death & Stillbirth
- Sanfilippo disease
- Sarcoidosis
- Schinzel Giedion syndrome
- Schizophrenia
- Schizophrenia Fellowship NZ
- Schmid Type Metaphyseal Chondrodysplasia
- Shwachman syndrome
- Severe Immune Deficiency
- Short Stature and Skeletal Dysplasia
- Short Statured People of Australia (SSPA)
- Short Statured People of Australia (NSW)
- Short Statured People of Australia (Vic)
- Short Statured People of Australia (SA)
- Shprintzen syndrome
- Shwachman-Diamond Syndrome - Australia Inc
- Simpson Golabi syndrome
- Sjogren syndrome
- Smith-Lemli-Opitz syndrome
- Smith-Magenis syndrome
- Smith Magenis Syndrome Families (SMS)
- Smith Magenis Syndrome Support Group Inc.
- Sotos syndrome
- Sotos Syndrome Support Group, Australian
- Spina Bifida
- Spinal Muscular Atrophy
- Spinocerebellar Ataxia Type II
- Spondylometaepiphyseal dysplasia
- Sponylo Epiphyseal DysplasiaShprintzen syndrome (Velo Facial Cardio syndrome)
- Shy Drager syndrome
- Simpson Golbi syndrome
- Sjorgen syndrome
- Smith-Lemli Optiz
- Smith Magenis syndrome
- SOFT Australia
- Sotos syndrome
- Sotos Syndrome Support Group
- Southern Child Care Support Program
- Spastic Society of Victoria
- Spina Bifida Assoc. of NSW
- Spina Bifida Assoc. of WA Inc.
- Spinal Muscular Atrophy
- Spinal Muscular Atrophy
- Spinocerebellar Ataxia Type 11
- Spondylocostal Dysplasia
- Spondylometaepiphseal dysplasia
- Spondlo Epiphyseal Dysplasia
- Stargardts Disease
- Steele Street Early Special Education Centre Devonport
- Stevens Johnson syndrome
- Stickler syndrome
- St Paul's Special School
- Sturge Weber
- Stuttering
- Succinci Semialdehyde Dehydrogenase deficiency
- Sudden Arrhythmia Death Syndromes (SADS) Foundation
- Syndromes Without A Name (SWAN)
- Systemic Lupus Erythematosus
t
- TAR syndrome
- Tay Sachs disease
- Tetrasomy 9p osteoporosis
- Thalassaemia
- Thalassaemia Society
- Thalassaemia Society of NSW
- The Northcott Society, Wagga, Dubbo, Parramatta, Coffs Harbour
- The Centre for Genetics Education
- Tourette syndrome
- Tourette Syndrome Association
- Townes Brock syndrome
- Treacher-Collins syndrome
- Trichothiodystrophy (Tay syndrome
- Trimethylaminuria (TMAU)
- Triple X syndrome (47,XXX
- Trisomy 12p, Trisomy 13, Trisomy 18 (Edward syndrome)
- Tuberous Sclerosis
- Tuberous Sclerosis Society Inc., Australian
- Turner syndrome (45,X)
- Turner Syndrome Assoc. of Aust. Ltd. (NSW)
- Turner Syndrome Association of Australia Ltd
- Tyrosine Anaemia
u
- Uncontrolled Epilepsy Support Assoc (Vic)
- Unique in Australia (a sub group of Unique UK)
- United Leukodystrophy Foundation (USA)
- Usher syndrome
v
- VATER Association
- Velo-Cardio-Facial Syndrome Foundation of Australia
- Von Hippel-Lindau syndrome
- Von Willer brand disease
w
- Weaver syndrome
- Weill-Marchesani syndrome
- Wellington Huntington’s Disease Assoc.(Inc.) (NZ)
- Werdnig-Hoffman syndrome
- West syndrome
- West Syndrome Support Group
- Wiedemann-Rautenstrauch syndrome
- Williams syndrome
- Williams Syndrome Association of Aust. Inc.
- Williams Syndrome Family Support Group (Vic) Inc
- Wiskott-Aldrich syndrome
- Wolf-Hirschhorn syndrome
- Wolf-Hirschhorn 4p- Syndrome Support Group
- Wolff-Parkinson-White syndrome
- Wolmans disease
x
- Xeroderma Pigmentosa
- X-linked Agammaglobulinanaemia
- X-linked Hypophosphatemia
- XLP syndrome
- XYY syndrome
z
AGSA – Sat, 02/07/2005 – 19:08