Making the right connections since 1988
Please note the genetic conditions listed here represent people who have a child or have the condition themselves on our Contact Register. They have contacted GAA seeking peer support and information, as well as contact with others who have a child with the same genetic condition.
We have over 3500 people on our Contact Register who are looking for other people affected by the same or similar condition. The link for each condition listed contains details of support groups (national and international), information about certain conditions, as well as contacts for useful services/information regarding that condition.
If we are unable to assist we can always point people who contact us with queries in the right direction plus provide the much needed support after the diagnosis of a genetic condition or are undiagnosed as the case may be.
If you cannot find your condition here, or you would like to add a support group to the list, please contact us directly by phone or email. If you know of a change of contact details for a support group listed here, please contact us so that we can update the website.
Please click here to view the list of Chromosomal Conditions.
A
Acrodysostosis Support and Research
Acrodysostosis with Multiple Endocrine Resistance
Acute Necrotizing Encephalopathy (ANE)
Acute Necrotizing Encephalopathy (ANE1 or IIAE3)
Addison's Disease (Adrenal Insufficiency)
Adenosine Deaminase 2 Deficiency
Agenesis of the Corpus Callosum
Albright Hereditary Osteodystrophy
Alfi syndrome (Ch 9p deletion, Monosomy 9p)
Alpha Thalassaemia X-Linked Mental Retardation (ATR-X)
Alpha-1 Antitrypsin Deficiency
Amyotrophic Lateral Sclerosis (ALS) (see Motor Neurone Disease)
Antiphospholipid Antibody syndrome (APLS)
Asphyxiating Thoracic Dystrophy (Jeune Syndrome)
Association for the Welfare of Children in Healthcare
Atypical Haemolytic Uraemic Syndrome (aHUS)
Autoimmune Inflammatory Arthropathy
Autoimmune Lymphoproliferative Syndrome (ALPS)
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy
Autosomal Recessive Primary Microcephaly (MCPH, Microcephaly Vera)
B
Bannayan-Riley-Ruvalcaba syndrome
Beals Syndrome (Congenital contractural arachnodactyly)
Bladder exstrophy, epispadias, cloacal exstrophy, hypospadias (BEECH)
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)
Borjeson-Forssman-Lehmann syndrome
C
C Syndrome (Opitz Trigonocephaly)
Caffey's Familial Neurovisceral Lipidosis
Caffey's Generalized Gangliosidosis
Caffey's Pseudo-Hurler syndrome
Cardiofaciocutaneous Syndrome (CFC)
Carnitine palmitoyltransferase II deficiency
Cartilage–hair hypoplasia (CHH)
CDKL5 (Cyclin-Dependent Kinase-Like 5)
Cerebrocostomandibular syndrome
Cerebrotendinous xanthomatosis
Chronic Granulomatous Disorder
Chronic Recurrent Multifocal Osteomyelitis
Common Variable Immunodeficiency (CVID)
Congenital Adrenal Hyperplasia (CAH)
Congenital Cerebellum Hyperplasia
Congenital Disorder of Glycosylation (CDG)
Congenital Hypertrichosis (Ambras Syndrome)
Congenital Muscular Dystrophy (CMD)
Congenital Protein C Deficiency
Congenital Prune Belly Syndrome
Congenital Sucrose Isomaltase Deficiency
Constitutional Mismatch Repair Deficiency CMMRD
Cooley's Anaemia – Thalassaemia Major
Cowden Syndrome (See PTEN Hamartoma Tumor Syndrome)
Cryopin Associated Periodic Syndromes (CAPS)
D
De Grouchy Syndrome (18q deletion)
Developmental Verbal Dyspraxia
E
Ebstein's Anomaly of the Tricuspid Valve
Emery Dreifuss Muscular Dystrophy
Encephalocraniocutaneous Lipomatosis
Epidermodysplasia Verruciformis
Epidermolysis Bullosa (Dystrophic)
F
Facial Paralysis / Moebius Syndrome
Facioscapulohumeral Muscular Dystrophy (FSHD)
Familial Adenomatous Polyposis Coli
Familial adenomatous polyposis (FAP)
Familial Atypical Cold Urticaria (FACU)
Familial Cold Autoinflammatory Syndrome (FCAS)
Familial dysautonomia (Riley–Day syndrome)
Familial Hemophagocytic Lymphohistiocytosis
Familial Mediterranean Fever (FMF)
Fetal AntiConvulsant Syndromes (FACS)
FG Syndrome (Opitz–Kaveggia syndrome)
Fibrodysplasia Ossificans Progressiva
Foetal valproate syndrome (FVS)
G
Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency
Glucose Transporter Type I Deficiency Syndrome (Glut1 Deficiency, Glut1 DS, G1D, or De Vivo Disease)
Gould syndrome - COL4a1 / COL4a2
H
Hemiconvulsion Hemiplegia Epilepsy (HHE)
Hereditary Fructose Intolerance
Hereditary Haemorrhagic Telangiectasia (Rendu Osler Weber Syndrome)
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
Hereditary motor and sensory neuropathies (HMSN)
Hereditary Neuropathy With Liability to Pressure Palsy (HNPP)
Hereditary Non-Polyposis Colorectal Cancer
Hereditary Papillary Renal Cell Carcinoma
Hyperimmunoglobulinemia D with Periodic Fever Syndrome (HIDS)
Hypermobility - Ehlers Danlos syndrome
Hypohidrotic Ectodermal Dysplasia
Hypomyelination with Brain stem and Spinal cord involvement and Leg spasticity (HBSL)
Hypophosphatemic Bone Disease (HBD)
Hypoplastic Left Heart Syndrome
I
Idiopathic Spastic Paraparesis
Idiopathic Thrombocytopenic Purpura (immune thrombocytopenia)
Infantile Neuroaxonal Dystrophy (INAD)
Intersex Peer Support Australia
J
Jacobsen Syndrome (11q deletion)
Job Syndrome (Hyperimmunoglobulin E (hyper IgE) Syndrome)
K
Keratosis Follicularis Spinulosa Decalvans
Kleefstra Syndrome (Ch 9q 34 deletion)
L
Lacrimo-Auriculo-Dento-Digital syndrome (LADD) Syndrome
Lambert Eaton Myasthenic Syndrome (LEMS)
Langerhans Cells Histiocytosis
Limb-Girdle Muscular Dystrophy
Lissencephaly with Cerebellar Hypoplasia
Long-chain-3-hydroxyacyl coenzyme A dehydrogenase Deficiency
M
Malignant Infantile Osteopetrosis
Marinesco-Sjogren Syndrome (or Marinescu-Sjogren Syndrome)
Mayer-Rokitansky Kuster-Hauser Syndrome (Müllerian agenesis)
MECP2 Duplication Syndrome (Xq28 duplication syndrome)
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
Megalocornea Mental Retardation
Merosin-Deficient Congenital Muscular Dystrophy (MDC1A)
Metaphyseal Chondrodysplasia of the Schmid type
Methylmalonic Acidemia (MMA) Vit B responsive
Microcephaly Vera (see Autosomal Recessive Primary Microcephaly)
Mitochondrial Respitatory Chain Disorder
Mixed Gonadal Dysgenesis Hypospadias
Monomelic Macrodystrophia lipomatosa
MTHFR (methylene-tetrahydrofolate reductase)
Multiple Endocrine Neoplasia 2a (MEN 2A)
Multiple Endocrine Neoplasia 2B (MEN 2B)
Multiple Endocrine Neoplasia Type 1 (MEN 1)
Multiple Epiphyseal Dysplasia (MED)
Multiple System Atrophy (Shy Drager Syndrome)
MURCS Association ((MU)llerian, (R)enal, (C)ervicothoracic (S)omite abnormalities)
N
Neonatal-Onset Multisystem Inflammatory Disease (NOMID)
Neurodegeneration with Brain Iron Accumulation (NBIA)
Neuronal Intestinal Dysplasia (NID)
O
Oculo-Dento-Digital Dysplasia (ODDD)
Oculopharyngeal Muscular Dystrophy (OPMD)
Ollier's Disease (Multiple Enchondromatosis)
Ophthalmia: Anophthalmia & Microphthalmia
Oral-Facial-Digital Syndrome (OFDS)
P
Palmoplantar Keratodermas (PPK)
Paraneoplastic Neurological syndrome (PNS)
Paroxysmal hypertension (pseudopheochromocytoma)
Paroxysmal Kinesigenic Choreoathetosis
Paroxysmal Nocturnal Haemoglobinuria
Persistant Hyperplastic Primary Vitreous
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI)
Phelan-McDermid Syndrome (22q13 deletion)
Pontine Tegmental Cap Dysplasia
Postural Orthostatic Tachycardia Syndrome (POTS)
Potocki-Lupski Syndrome (Dup 17p11.2)
Primary ciliary dyskinesia (PCD)
Primary ciliary dyskinesia (PCD)
Primary Sclerosing Cholangitis (PSC)
Progressive Familial Intrahepatic Cholestasis (PFIC)
Progressive Myoclonic Epilepsy
Progressive Supranuclear Palsy (Richardson-Steele-Olszewski Syndrome)
Pseudoxanthoma Elasticum (PXE)
PTEN Hamartoma Tumor Syndrome (PHTS) (AKA Cowden Syndrome)
Q
R
S
Sanfilippo Disease (Mucopolysaccharidosis III (MPS-III) )
Schmid Type Metaphyseal Chondrodysplasia
Septo-optic dysplasia (SOD, de Morsier syndrome)
Severe Combined Immunodeficiency (SCID)
Short Stature and Skeletal Dysplasia
Shprintzen Syndrome (Velo Facial Cardio syndrome - 22q11)
Simpson Golabi Behmel Syndrome
SNX27 (Sorting nexin family member 27) mutations
Spasmodic Torticollis (Cervical dystonia)
Spondylo-meta-epiphyseal Dysplasia
Spondyloepiphyseal dysplasia congenita (SEDC)
Spondyloepiphyseal dysplasia congenita (SEDC)
Stargardt's Disease (Fundus Flavimaculatus)
Stillbirth, Neonatal Death and Miscarriage
Subacute Sclerosing Panencephalitis
Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)
Sudden Arrhythmia Death Syndromes (SADS)
T
TAR Syndrome (thrombocytopenia with absent radius)
Tay syndrome (congenital ichthyosis with trichothiodystrophy)
Thomson's Disease (Myotonia congenita)
Thoracic Aortic Aneurysm dissection (TAAD)
Trichorhinophalangeal Syndrome (TRPS)
Trimethylaminuria (TMAU, Fish Odour Syndrome)
Triple A Syndrome (Allgrove syndrome)
Tumor Necrosis Factor Receptor-Associated Periodic Fever Syndrome (TRAPS)
U
V
Velo-Cardio-Facial Syndrome (22q11.2 deletion, DiGeorge Syndrome, Opitz FG)
Venus Malformation of the mediastinum
W
Waldenstrom Macroglobulinemia (WM)
Wiedemann-Rautenstrauch Syndrome
X
X-linked intellectual disability
X-linked lymphoproliferative disease (XLP)
Y
Z
4
<p>GA will endeavour to facilitate contact with another family/individual affected by the same, or similar conditions, and/or provide information about an overseas support group.GA also provides a Peer Support and Information Officer who deals with enquiries and facilitates ongoing support for individuals, families, health professionals and other interested groups.</p>
<ul>
<li>GA Aus has a database of over 1400 predominantly rare genetic conditions/ rare diseases and has a Rare Treasures support group which has over 250 very rare chromosomal abnormalities</li>
<li>Resources relating to education, respite care, medical services, allowances, and other helpful organisations</li>
<li>Information seminars</li>
<li>Local and regional contacts</li>
<li>Regular newsletters</li>
</ul>
A gene or chromosome fault can result in a genetic condition. Genes are the instructions that determine physical characteristics such as height, hair and eye colour, strength of our bones and the correct functioning of our bodies. Genes are located on chromosomes inside the cells of our bodies. A genetic condition can run in families, but may occur without a previous family history.
Take a look at our list of support groups in our list of genetic conditions, or contact Genetic Alliance on +61 2 9295 8359.
Centrelink provides funding for carers and people living with genetic conditions.
■ Currently it is estimated one person in ten will be adversely affected, directly or indirectly, by a genetic problem during their lifetime
■ About half of all miscarriages are caused by chromosomal abnormalities
The completion of the full human genome sequence, in February 2001, refined the estimated number of genes in the human genome to around 30,000. Interestingly, the number of genes needed to make a human being is only double the number needed for apparently much simpler animals, such as fruit fly or a worm!
Around 22,000 genes have been identified to date. Almost 14,014 of these have been mapped to their chromosomal location and of these around 1,639 genes have been associated with human genetic disorders.
The list is increasing every year and includes such disabilities as blindness, cystic fibrosis, muscular dystrophy, haemophilia, breast cancer and problems with intellectual and physical development.
At present genetic testing is available in Australasia for approximately 300 disorders. Some tests are for genes involved in rare congenital disease of childhood. Some are for single gene disorders that manifest in the adult years.
<p><span style="font-size: medium;"><strong>The following has been republished from the Human Genetics Society of Australasia - http://www.hgsa.org.au/asgc/frequently-asked-questions</strong></span>
<strong>HOW CAN I ARRANGE A GENETIC COUNSELLING SESSION?</strong>
In various regions of Australia and New Zealand, clinical genetics units and/or services are administered by public and private health facilities and may function quite differently. Most clinical genetics services require a letter or phone call from a referring health professional. Written referrals are usually preferred, because this facilitates continuity of care following the genetic consultation. However, self-referral may be acceptable to some units. All units welcome phone contact from individuals who have concerns about their genetic history or who have a genetic concern about their current pregnancy. A brief discussion with the duty genetic counsellor will clarify the appropriate approach.
<strong>HOW CAN I GIVE FEEDBACK TO THE AUSTRALASIAN SOCIETY OF GENETIC COUNSELLORS ABOUT MY PERSONAL EXPERIENCE OF GENETIC COUNSELLING?</strong>
As members of a relatively new, developing profession, it is very important that we understand the way in which our services are received and / or experienced by members of the public. Please provide this feedback via our email contact link: secretariat@hgsa.org.au
<strong>HOW CAN I PREPARE FOR MY APPOINTMENT TO THE GENETIC COUNSELLING SERVICE?</strong>
Before attending a genetic counselling session, it may be helpful to find out as much information as you can about the medical history of both sides of your family as this is the type of information discussed at your appointment. This might include:</p>
<ul>
<li>How you are related to each family member, including whether family members are adopted or half relatives </li>
<li>any major health conditions that affect family members</li>
<li>the age of onset of each condition</li>
<li>information on miscarriages</li>
<li>the cause and age of death of family members (if relevant)</li>
</ul>
<p>We appreciate this is sometimes not always possible as some people do not have contact with some branches of their family or may be adopted and know very little family history information. If you were concerned about the level of information you will be able to gather, it would be helpful to discuss this with the genetics service before the appointment. You may also sometimes be asked to bring photographs of family members to an appointment.
It’s a good idea to write down any questions you think of before going to a session to make sure they are answered.
<strong>HOW DO I FIND A GENETIC COUNSELLING SERVICE NEAR ME?</strong>
A list of the genetic counselling services within Australia and New Zealand can be found by following our link to find a genetic counsellor.
<strong>IT SOUNDS COMPLICATED. HOW CAN I REMEMBER ALL THE INFORMATION DISCUSSED AT MY APPOINTMENT?</strong>
Most genetic counselling services will provide you and your referring doctor with a summary letter of your appointment. The genetic counselling service will also have access to fact sheets, brochures, booklists and recommended internet resources about the genetic condition and support services. If you would like a recording of your consultation, you may like to check whether you can bring a blank audio tape with you to your appointment for this purpose.
You can always call or ask to be seen again if you have further questions or concerns
<strong>THERE IS SO MUCH DISCUSSION OF POSSIBILITIES. WILL THE GENETIC COUNSELLOR TELL ME WHAT TO DO?</strong>
Genetic counsellors do not make decisions for you – their role is helping you reach decisions which are appropriate for you and your family. After genetic counselling, you may have to make decisions about:</p>
<ul>
<li>whether or not to have genetic testing done</li>
<li>who to tell about the results of the test</li>
<li>whether you want medical treatment, if it is available</li>
<li>how you are going to live your life in response to the results of the testing</li>
<li>how much support you are going to need</li>
</ul>
<p>Genetic counsellors are skilled with helping people reach a decision which feels right for that person. For some people, all they need is a lot of information. Once they have this information, they feel that they have everything they need to make their own decision. For others, it is easier to go through a series of scenarios (“Imagine if”) where they try to think about how it would feel if they opted for testing, how they might cope if the result was good news or bad news, who they would talk to about it, how it might affect their financial and personal lives and how it might affect the people around them.
<strong> THIS IS MY FIRST APPOINTMENT WITH A GENETIC COUNSELLING SERVICE. WHAT CAN I EXPECT FROM THIS APPOINTMENT?</strong>
This appointment will usually take between 1-2 hours. It may involve a number of different members of the genetic counselling service depending on the types of genetic condition to be discussed. Your genetic counsellor will</p>
<ul>
<li>ask you what specific questions or concerns you have and he/she will aim to answer these during the session. You may also like to bring a family member or friend for additional support.</li>
<li>take a record of your family and personal medical history. They will ask questions about your relatives such as names, dates of birth and death, causes of death and general health. If English is not your first language an interpreter can be arranged. Once they have all the needed information they will be in a better position to explain</li>
<li>Provide information on what they know about the condition, how it may affect family members and how/if it is inherited in your family, how to manage the condition and any relevant support resources and research.</li>
<li>may ask you to have a blood test, usually within the same building. You can find out what is involved and how long results take before taking any tests. Although genetic diagnosis is available for an increasing number of conditions, technology is not at a point yet where every condition can be identified, so it is important to be aware that you - may not get a diagnosis or there may not be a genetic test available at that point in time. If a diagnosis is not made or a genetic test is not available, it may be appropriate to be reviewed in the clinic at a later point in time.</li>
<li>Provide support and counselling to promote informed choices and the best possible adjustment in view of risk assessment, family goals, ethical and religious values</li>
</ul>
<p>A medical specialist may sometimes need to do a physical examination. Draw their attention to any feature of concern to you. They may also wish to examine family members who are present. You can request a doctor of the same sex if preferred. In some cases, photos can assist with diagnosis. Written permission is required and you can refuse the request for photos.</p>
<p>After the initial consultation an opportunity may be provided to go over the information and offer on-going support as families and individuals learn about the condition. It is very common for people to think of many questions after the genetic counselling session, and new questions also arise as a condition develops. Follow-up is provided in further consultations, if geographically possible, or by telephone. A letter summarising the consultation(s) is also provided.</p>
<p>The Human Genetics Society of Australasia has documented guidelines for the Process of Genetic Counselling.
<strong>WHAT IS GENETIC COUNSELLING?</strong>
Genetic counselling is a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions.
<strong>WHAT IS GENETIC DISCRIMINATION?</strong>
Some genetic information may have implications for your options for insurance cover such as life, income protection, disability, trauma, business and insurance relating to bank loans.
The HGSA position statement provides information for individuals and professionals about the implications personal genetic information may have on Australian insurance products.:
<strong>What is the difference between a genetic counsellor and other health professionals who provide genetic counselling?</strong>
In Australasia, genetic counsellors, must have completed an approved postgraduate program in genetic counselling which involves specialist training in genetics and counselling.</p>
To facilitate support for those affected directly or indirectly by genetic conditions throughout Australasia.
Click on Bert, the Genetic Alliance Frog - to make a donation. All donations over $2 are tax deductible.
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