Genetic Conditions and Support Groups
Please note that this is a list of both support groups and genetic conditions. We have people on our Contact Register who are looking for other people affected by the same condition. In many cases, AGSA is the initial point of contact.
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 (top right of the screen).
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
- Albinism
- Albinism Fellowship of Australia Inc
- Alkaptonuria
- Alpha l Antitrypsin Deficiency
- Australian Alpha1 Association (A1AD)
- Alpha Manniosidosis
- Alpha Thalassaemia X-Linked Mental Retardation
- Alport Foundation Of Australia
- Alstroms Syndrome
- Alzheimer's Australia
- 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 Wellbeing of Children in Healthcare (AWCH)
- Aussie F.O.L.K.S., The Australian Landau Kleffner Association
- Australian Addison's Disease Assoc. Inc
- Australian Arthrogryposis Group (TAAG)
- Australian Cranio-Maxillo Facial Foundation
- Australian Crohn's and Colitis Association (ACCA)
- Australian Cystinosis Support Group
- Australian Ehlers Danlos Syndrome Support Group
- Aust. Huntington's Disease Association (Qld) Inc.
- Aust. Huntington's Disease Assoc. (NSW) Inc.
- Australian Jeune Syndrome Association Inc
- Australian Klippel-Feil Syndrome Support Group
- Australian Leukodystrophy Support Group Inc. (ALDS)
- Australian MPS Society
- Australian Myasthenic Association in NSW
- Australian Niemann Pick Type C Disease Foundation Inc
- Australian Primary Immune Deficiencies Association (A.P.I.A.)
- Australian Sotos Syndrome Support Group
- Australian Speak Easy Association
- Australian Sturge-Weber Support Group
- Australasian CHARGE Syndrome Association Australia
- Australasian Sotos Syndrome Support Group
- Australasian Tuberous Sclerosis Society Inc
- Australian Thyroid Foundation
- Australian Society for Ectodermal Dysplasia
- Australian Wolf Hirschhorn Syndrome Support Group
- Autism Spectrum (Aspect) Australia
- Ataxia -Hereditary
B
- Baller-Gerold Syndrome
- Bannayan-Riley-Ruvalcaba Syndrome
- Bardet-Biedl Society
- Bartter Syndrome
- Batten Disease
- Batten’s Disease Support & Research Association
- 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
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 Disability Early Intervention Program
- Central Core Disease
- Centre for Developmental Disabilities
- Centre for Genetics Education, The
- Cerebellum Hypoplasia
- Cerebellar Hypoplasia Support Network Inc
- Charcot-Marie-Tooth Disease
- Charcot-Marie Tooth Association of Australia
- CHARGE Syndrome
- 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 Australia Inc.
- Coffin-Lowry Syndrome
- Coffin-Siris Syndrome
- Cohen Syndrome
- Combined Immune Deficiency Disease
- Congenital Adrenal Hyperplasia
- Congenital Adrenal Hyperplasia (CAH) Support Group
- Congenital Alopecia Totalis
- Congenital Anodontia
- Congenital Cone Dystrophy
- Congenital Disorder of Glycosylation
- Congenital Hyperinsulinism
- 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)
- Cornelia de Lange Syndrome Australasia Association (NSW)
- Corticobasal Degeneration
- Costello Syndrome
- Craniosynostosis Syndrome
- Creutzfeldt Jacob Disease
- Creutzfeldt Jacob Disease Support Group Pty Ltd
- Cri-Du-Chat Syndrome
- Cri Du Chat Support Group of Australia
- Crohn Disease and Colitis
- Crouzon Syndrome
- Cushing Syndrome
- Cyclical Vomiting Syndrome
- Cyclical Vomiting Syndrome (CVS) Support Australia
- Cystic Fibrosis Australia Inc
- Cystinosis
- Cystinosis Support Group, Australian
- Cystinuria
- Cytochrome C. Oxidase Deficiency
D
- Dandy-Walker Malformation
- Darling Point Special School
- De Barsy Syndrome
- Dejerine-Sottas Disease
- Desbuquois Syndrome
- Developmental Verbal Dyspraxia
- 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 Childhood Intervention Service, Tasmania
- Ebsteins Anomaly of the Tricupsid Valve
- Ectodermal Dysplasia
- Ectodermal Dysplasia Support Group
- Ectrodactyly
- Ehlers-Danlos Syndrome
- Ellis-Van Creveld Syndrome
- Emery Dreifuss Muscular Dystrophy
- Encephalocraniocutaneous Lipomatosis
- Epidermal Nevus Syndrome
- Epidermolysis Bullosa, Dystrophic
- Epilepsy Australia
- Erythropoietic Protoporphyria
F
- Fabry Disease
- Fabry Support Group Australia 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 NSW
- 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
- Family Resource and Network Support Inc (FRANS)
- Fraser Syndrome
- Friedreich's Ataxia
- Friedreich Ataxia Research Association (NSW)
- Frontonasal Dysplasia
- Fryns Syndrome
- Fukuyama Syndrome
G
- Galactosaemia
- Gardner Syndrome
- Gaucher Disease
- Gaucher Association of Australia
- Gitelman Syndrome
- Glucose 6 Phosphaate Dehydrogenase (G6PD) Deficiency
- Glucosidosis Enzyme Deficiency
- Glycogen Storage Diseases
- GM1 Ganliosidosis
- Goldenhar Syndrome
- Gorllin Syndrome
- Goltz Syndrome
- Graves Disease
- Guillain-Barre Syndrome Association of NSW
H
- Haemochromatosis
- Haemochromatosis Society Australia Inc
- Haemophilia Foundation Australia
- Hailey-Hailey Disease
- Hajdu-Cheney Syndrome
- Hallermann-Streiff Syndrome
- Hallervorden-Spatz Disease
- Hartnup Disease
- Hastings Early Intervention Service, Port Macquarie
- Hemihypertrophy
- Hemimegalencephaly
- Hereditary Angioneurotic Edema
- Hereditary Fructose Intolerance
- Hereditary Haemorrhagic Telangiectasia (Rendu Osler Weber Syndrome )
- Hereditary Multiple Exostoses
- Hereditary Spastic Paraplegia
- Hereditary Spherocytosis
- Hirschsprung Disease
- Holt Oram Syndrome
- Holoprosencephaly
- Homocystinuria
- Homolateral Brain Syndrome
- HSP Research Foundation
- Hunter Syndrome
- Huntington's Disease
- Huntington's Disease Assoc. (NSW) Inc., Aust
- Huntington's Disease Association (Qld) Inc., Aust
- Huntington’s Disease Associations of NZ
- Hydranencephaly
- Hydrocephalus
- Hydrocephalus Support Association
- 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
I
- Information of Disability and Education Awareness Service I.D.E.A.S. Inc
- Idiopathic Pulmonary Fibrosis
- Idiopathic Thrombocytopenic Purpura
- Immotile Cilia Syndrome
- Immune Deficiency Disorders
- Immune Deficiencies Foundation Australia
- Incontinentia Pigmenti
- Ivermark Syndrome
J
- Jacobsen Syndrome
- Jeune Syndrome
- Jeune Syndrome Association Inc.,Australia
- Job Syndrome
- Johanson-Blizzard Syndrome
- Joubert Syndrome
K
- Kabuki Syndrome
- Kallmann Syndrome
- Kawasaki Syndrome
- Kearns Sayre Syndrome
- Keratosis follicularis Spinulosa Decalvans
- Kidney Health Australia
- Kidney Support Network of QLD
- Klinefelter Syndrome (47,XXY)
- Klippel-Feil Syndrome
- Klippel Trenaunay Weber Syndrome
- Krabbe Disease
- Kurrajong Early Chilhood Intervention Service
- Kyphomelic Dysplasia
L
- Landau-Kleffner Syndrome
- Langer-Giedion Syndrome
- Larsen Syndrome
- Laurence-Moon-Biedl
- Lebers Optic Atrophy
- Leigh Disease
- Leopard Syndrome
- Leri-Weill Syndrome
- Lesch Nyhan Syndrome
- Leukodystrophy
- Leukodystrophy Support Group Inc. (ALDS), Australian
- Li Fraumeni
- Limb Girdle Muscular dystrophy
- Lipodystrophy & Brown's Syndrome
- Lisscencephaly
- Lissencephaly Network of Australia
- Long-Chain-3-Hydroxyacyl Coenzyme a Dehydrogenase Deficiency
- Long QT Syndrome
- Lowe Syndrome
- Lowe Syndrome Association Inc. (USA)
- Lujan-Fryns Syndrome
- Lupus
- Lupus Association of NSW Inc.
- Lymphangioleiomyomatosis Australia
- Lymphas Genphasia
- Lymphoedema Association of Australia
- Lysosomal Storage Disorders
- Lysosomal Diseases Australia
M
- Machado Joseph Syndrome
- Maple Syrup Urine Disease
- Marfan Syndrome
- Marfan Syndrome Association Victoria
- Mayer-Rokitansky Kuster-Hauser Syndrome
- Mayer-Rokitansky Kuster-Hauser Syndrome Support Group
- Megalocornea Mental Retardation
- MELAS Syndrome
- Meniere’s Disease
- Meniere’s Australia
- Menke Syndrome
- Mental Illness Fellowship of Australia Inc
- 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 of Australia
- Mucopolysaccharide & Related Diseases Society Aust (MPS)
- Mucopolysaccharidosis
- Mullerian Duct Agenesis
- Multiple Endocrine Neoplasia 2a
- Multiple Endocrine Neoplasia 2B
- Multiple Epiphyseal Dysplasia
- Multiple Exostoses
- Muscular Dystrophy Association (MDA)
- Muscular Dystrophy Association of NSW
- Muscular Dystrophy & Facioscapulohumeral Dystrophy
- Myasthenia Gravis
- Myotonic Dystrophy
- Myotubular Myopathy
N
- Nager & Miller Syndrome
- Nail Patella Syndrome
- Narcolepsy
- Narcolepsy and Overwhelming Daytime Sleep Society of Australia Inc (NODSS)
- National Council of Intellectual Disability
- Netherton Syndrome
- Neuroaxonal Dystrophia
- Neurofibromatosis
- Neurofibromatosis Association of Australia (NFAA)
- Neuronal Intestinal Dysplasia
- New Zealand Organisation for Rare Disorders
- Neuronal Intestinal Dysplasia (NID)
- NiDKiDS Support Group Ltd
- Niemann-Pick Disease
- Nonketotic Hyperglycinaemia
- Noonan Syndrome
- Norrie Syndrome
- 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 Society of Australia
- Osteopetrosis
P
- Paget Disease
- Paget's Disease Support Group
- Pallister-Hall Syndrome
- Pallister-Hall Foundation (Aust)
- Pallister-Fillian Syndrome
- 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 Type II)
- Perthes Syndrome
- Peutz-Jeghers Syndrome
- Phenylketonuria (PKU)
- Picks Disease
- Pierre Robin Syndrome
- Pierre Robin Australia Information Support and Education (PRAISE)
- Pierre Robin Australia Support Service
- PKU Assoc of NSW Inc
- 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
- Primary ImmunoDeficiency Association (APIA), Australian
- Progressive Myoclonic Epilepsy
- Progressive Supranuclear Palsy
- Proteus Syndrome
- Pseudohypoparathyroidism
- Pseudoxanthoma Elasticum (PXE)
- Pseudoxanthoma Elasticum Support Group
- PXE Support Group
- Pycnodysostosis
- Pyridoxine dependency
- Pyruvate dehydrogenase Deficiency
- Pyruvatekinase 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
- 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 NSW
- Schmid Type Metaphyseal Chondrodysplasia
- Scope Victoria
- Severe Immune Deficiency
- Short Stature and Skeletal Dysplasia
- Short Statured People of Australia (SSPA)
- Shprintzen Syndrome (Velo Facial Cardio Syndrome)
- Shwachman Syndrome
- Shwachman-Diamond Syndrome
- Shwachman-Diamond Syndrome - Australia Inc
- Shy Drager Syndrome
- Simpson Golabi Behmel Syndrome
- Sjogren’s Syndrome
- Sjogren’s Syndrome Information Line
- Smith-Lemli-Opitz Syndrome
- Smith-Magenis Syndrome
- Smith Magenis Syndrome (SMS) Australia
- Smith Magenis Syndrome (SMS) Support Group of Australia
- SOFT Australia
- Sotos Syndrome
- Sotos Syndrome Support Group,. Australian
- Spina Bifida
- Spina Bifida Group of NSW
- Spina Bifida Assoc. of WA Inc.
- Spinal Muscular Atrophy
- Spinocerebellar Ataxia
- SpinoCerebellar Ataxia Resources and Support Service
- Spondylocostal Dysplasia
- Spondylometaepiphyseal dysplasia
- Spondyloepiphyseal Dysplasia
- Stargardts Disease
- Stevens Johnson Syndrome
- Stickler Syndrome
- Stickler Syndrome Australia Support Service (SSASS)
- Sturge Weber
- Stuttering
- Succinci Semialdehyde Dehydrogenase Deficiency
- Sudden Arrhythmia Death Syndromes (SADS) Foundation
- Support Organisation for Trisomy and Related Disorders (SOFT) in Australia
- Supporting Aussie Kids with Kabuki Syndrome
- Syndromes Without A Name (SWAN)
- Systemic Lupus Erythematosus
T
- TAR Syndrome
- Tay Sachs Disease
- Tetrasomy 9p Osteoporosis
- Thalassaemia
- Thalassaemia Society of NSW
- Thalassaemia Society of Victoria
- The Centre for Genetics Education
- TOF/VATER Network
- Tourette Syndrome
- Tourette Syndrome Association of Australia
- Townes-Brocks Syndrome
- Townes-Brocks Syndrome Group
- Treacher-Collins Syndrome
- Trichothiodystrophy (Tay Syndrome)
- Trimethylaminuria (TMAU)
- Triple X Syndrome (47,XXX)
- Trisomy 13 (Patau Syndrome), 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
V
- VATER Association
- Velo-Cardio-Facial Syndrome
- Velo-Cardio-Facial Syndrome Foundation of Australia
- Vision Australia
- Von Hippel-Lindau Syndrome
- Von Hippel-Lindau Family Alliance Australia
- Von Willer Brand Disease
W
- Weaver Syndrome
- Weill-Marchesani Syndrome
- Werdnig-Hoffman Syndrome
- West Syndrome
- West Syndrome Association
- 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 Syndrome Support Group., Australian
- Wolff-Parkinson-White Syndrome
- Wolmans Disease
X
- Xeroderma Pigmentosa
- X-linked Agammaglobulinanaemia
- X-linked Hypophosphatemia
- XLP Syndrome
- XYY Syndrome







