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 | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
A
- Aarskog Syndrome
- Achondroplasia
- Acid Maltase Deficiency
- Acoustic Neuroma
- Acrocallosal Syndrome
- Adams Oliver Syndrome
- Addison's Disease
- Adrenoleukodystrophy
- Ageing Disability and Homecare Department
- Agenesis of the Corpus Callosum
- Aicardi Syndrome
- Alagille Syndrome
- Albinism
- Alkaptonuria
- Alpha-1 Antitrypsin Deficiency
- Alpha Manniosidosis
- Alpha Thalassaemia X-Linked Mental Retardation
- Alport Syndrome
- Alstroms Syndrome
- Alzheimer's Disease
- Amyotrophic Lateral Sclerosis
- Androgen Insensitivity Syndrome (AIS)
- Angelman Syndrome
- Aniridia
- Anticardiolipin AB Type
- Antiphospholipid Syndrome
- Ankylosing Spondylitis
- Anorectal Malformations
- Apert Syndrome
- Argininosuccinic Aciduria & Citrullinaemia
- Arthrogryposis
- Aspergers Syndrome
- Association for Children With a Disability Victoria
- Association for the Wellbeing of Children in Healthcare (AWCH)
- Asthma
- Atypical Haemolytic Uraemic Syndrome
- Australian Thyroid Foundation
- Autism Spectrum
- Ataxia -Hereditary
B
- Baller-Gerold Syndrome
- Bannayan-Riley-Ruvalcaba Syndrome
- Bardet-Biedl Syndrome
- Bartter Syndrome
- Batten Disease
- Beckwith-Weidemann Syndrome
- Behr Syndrome
- Berardinelli Syndrome
- Bilateral Iris Coloboma
- Bladder, Exstrophy, Epispadias, CloacalExstrophy, Hypospadias Australian Community
- Bloom Syndrome
- Blount's Disease
- Borjeson-Forssman-Lehmann Syndrome
- Bowel Group for Kids
- BPES
- BRCA 1 and BRCA 2 Gene Faults
- Brown Syndrome
- Brown Vialetto Van Laere Syndrome / Fazio Londe
C
- Caffeys Familial Neurovisceral Lipidosis
- Caffeys Generalized Gangliosidosis
- Caffeys Pseudo-Hurler Syndrome
- Camptomelic Dysplasia
- Canavans Disease
- Cardiac Conditions
- 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
- Ceroide Neuronale Phases 1
- Charcot-Marie-Tooth Disease
- Charcot-Marie Tooth Association of Australia
- CHARGE Syndrome
- Chondrodysplasia
- Chronic Granulomatous Disease
- Chromosomal Conditions
- Chromosome 18 Abnormalities
- Chromosome 18 Registry & Research Society (Aust), The
- Chromosome Disorders - Rare
- Cleft Palate & Cleft Lip
- 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
- ConnecTed Clinic Westmead
- 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
- Cranio-Facial Conditions
- Craniosynostosis Syndrome
- Creutzfeldt Jacob Disease
- Creutzfeldt Jacob Disease Support Group Pty Ltd
- Cri-Du-Chat Syndrome
- Cri Du Chat Support Group of Australia
- Crohn's Disease and Colitis
- Crouzon Syndrome
- Cushing Syndrome
- Cyclical Vomiting Syndrome
- Cystic Fibrosis Australia Inc
- Cystinosis
- Cystinuria
- Cytochrome C. Oxidase Deficiency
D
- Dandy-Walker Malformation
- Darling Point Special School
- De Barsy Syndrome
- Deafness
- 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
- Ectrodactyly
- Ehlers-Danlos Syndrome
- Ellis-Van Creveld Syndrome
- Emery Dreifuss Muscular Dystrophy
- Encephalocraniocutaneous Lipomatosis
- Eosinophilic Disorders
- Epidermal Nevus Syndrome
- Epidermolysis Bullosa
- Epidermolysis Bullosa, Dystrophic
- Epilepsy
- 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
- Fascioscapulohumeral Dystrophy (FSHD)
- Fatty Oxidation Disorders
- Fazio-Londes Syndrome
- FG Syndrome
- Fibrodysplasia Ossificans
- Fish Odor Syndrome
- Fibromuscular Dysplasia (FMD)
- 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 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
- Gorlin Syndrome
- Goltz Syndrome
- Graves Disease
- Growth Affected Conditions
- Guillain-Barre Syndrome
- Guillain-Barre Syndrome Association of NSW
H
- Haemochromatosis
- Haemochromatosis Australia
- 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 Angioedema (HAE)
- Hereditary Angioneurotic Edema
- Hereditary Fructose Intolerance
- Hereditary Haemorrhagic Telangiectasia (Rendu Osler Weber Syndrome)
- HLRCC (Hereditary Leimyoma Renal Cell Carcinoma)
- Hereditary Multiple Exostoses
- Hereditary Spastic Paraplegia
- Hereditary Spherocytosis
- Hereditary Hemorrhagic Telangiectasia or OSLER - WEBER - RENDU SYNDROME
- Het Werner Syndroom
- Hirschsprung Disease
- Hirschsprung Disease (Bowel Group for Kids)
- Holt Oram Syndrome
- Holoprosencephaly
- Homocystinuria
- Homolateral Brain Syndrome
- HSP Research Foundation
- Hunter Syndrome
- Huntington's Disease
- Hydranencephaly
- Hydrocephalus
- Hydrocephalus Support Association
- Hydronephrosis
- Hyperargininaemia
- Hyper IGE Syndrome
- Hypertrophic Cardiomyopathy
- Hypoadrenal Hyperthyroidism
- Hypochondroplasia
- 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
- Incontinentia Pigmenti
- Intracranial Hypertension
- Ivermark Syndrome
J
K
- Kabuki Syndrome
- Kabuki Syndrome (Supporting Aussie Kids with Kabuki Syndrome)
- Kallmann Syndrome
- Kawasaki Syndrome
- Kearns Sayre Syndrome
- Keratosis follicularis Spinulosa Decalvans
- Kidney Conditions
- 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
- Learning Difficulties
- Lebers Optic Atrophy
- Leigh Disease
- Leopard Syndrome
- Leri-Weill Syndrome
- Lesch Nyhan Syndrome
- Leukodystrophy
- Li Fraumeni
- Limb Differences
- 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
- Lymphedema
- Lymphoedema Association of Australia
- Lysosomal Storage Disorders
- Lysosomal Diseases Australia
M
- Machado Joseph Syndrome
- Maple Syrup Urine Disease
- Marfan Syndrome
- Marfan Syndrome
- Marfan Syndrome Association Victoria
- Mastocytosis
- 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
- Merrf Syndrome
- Metabolic Conditions
- Metabolic Dietary Disorders Association (MDDA)
- Metachondromatosis
- Methylmalonic Acidemia
- Microcephaly
- Miller-Dieker Syndrome
- Minicore Disease
- Mitochondrial Disease
- Mitochondrial Myopathies
- Moebius Syndrome
- Monosomy 9p
- Mowat Wilson Syndrome
- Motor Neurone Disease
- Motor Neurone Disease Association of Australia
- Moyamoya Disease
- Mucopolysaccharidosis
- Mullerian Duct Agenesis
- Multiple Endocrine Neoplasia 2a
- Multiple Endocrine Neoplasia 2B
- Multiple Epiphyseal Dysplasia
- Multiple Exostoses
- Muscular 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
- Infantile Neuroaxonal Dystrophy (INAD)
- 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
- Oxalosis & Hyperoxaluria Foundation
P
- Paget Disease
- Paget's Disease Support Group
- Pallister-Hall Syndrome
- Pallister-Hall Foundation (Aust)
- Pallister-Killian 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
- Pentasomy X (5 X)
- Peripheral Neuropathy
- Peripheral Neuropathy (CMT Type II)
- Perthes Syndrome
- Peutz-Jeghers Syndrome
- Phenylketonuria (PKU)
- Phenylketonuria (PKU) - PKU Association
- Picks Disease
- Pierre Robin Syndrome
- Pierre Robin Australia Information Support and Education (PRAISE)
- Pierre Robin Australia Support Service
- Pituitary Conditions
- PKU Assoc of NSW Inc
- Poland Syndrome
- Polyostic Fibrous Dysplasia
- Polycystic Kidney Disease
- Polycystic Kidney Disease Association
- Pompe Disease
- Potter Syndrome
- Popliteal Pterygium Syndrome
- Prader-Willi Syndrome
- Prader-Willi Syndrome Association
- Progressive Myoclonic Epilepsy
- Progressive Supranuclear Palsy
- Proteus Syndrome
- Pseudohypoparathyroidism
- Pseudoxanthoma Elasticum
- Pseudoxanthoma Elasticum (PXE)
- Pseudoxanthoma Elasticum Support Group
- Psoriasis
- PTEN Mutation, PTEN Haematoma Tumour Syndrome or Cowden Syndrome
- 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 Database
- Raynaud disease
- Reflex Sympathetic Dystrophy Syndrome
- Refsum Disease
- Reinfenstein Syndrome
- Retina Australia (NSW) Inc.
- Retina Australia (Vic) Inc.
- Retinitis Pigmentosa and related conditions
- 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
- Scleroderma
- Schinzel Giedion Syndrome
- Schizophrenia
- Schizophrenia Fellowship NSW
- Schmid Type Metaphyseal Chondrodysplasia
- Scope Victoria
- 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
- 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)
- Stiff Person Syndrome
- Stillbirth, Neonatal Death and Miscarriage
- 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
- Torticollis Spasmodic
- Tourette Syndrome
- Tourette Syndrome Association of Australia
- Townes-Brocks Syndrome
- Townes-Brocks Syndrome Group
- Treacher-Collins Syndrome
- Trichothiodystrophy (Tay Syndrome)
- Trigeminal Neuralgia
- Trimethylaminuria (TMAU)
- Triple X Syndrome (47,XXX)
- Trisomy 13 (Patau Syndrome), Trisomy 18 (Edward Syndrome)
- Tuberous Sclerosis
- 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
- Wilson's Disease
- Wiskott-Aldrich Syndrome
- Wolf-Hirschhorn Syndrome
- Wolff-Parkinson-White Syndrome
- Wolmans Disease
X
- Xeroderma Pigmentosa
- X-linked Agammaglobulinanaemia
- X-linked Hypophosphatemia
- X-linked Retinoschisis
- XLP Syndrome
- XYY Syndrome