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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 GA 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 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 4

A

Aarskog syndrome

Abetalipoproteinemia

Achondroplasia

Acid Maltase Deficiency

Acoustic Neuroma

Acquired Brain Injury

Acrocallosal Syndrome

Acrodysostosis with Multiple Endocrine Resistance

Acromegaly

Acute Necrotizing Encephalopathy (ANE1 or IIAE3)

Adams Oliver syndrome

Addison's Disease

Adenosine Deaminase 2 Deficiency

Adrenoleukodystrophy

Agenesis of the Corpus Callosum

Aicardi syndrome

Alagille syndrome

Albinism

Albright Hereditary Osteodystrophy

Alexander Disease

Alfi syndrome (Ch 9p deletion, Monosomy 9p)

Alkaptonuria

Alpha Mannosidosis

Alpha Thalassaemia X-Linked Mental Retardation (ATR-X)

Alpha-1 Antitrypsin Deficiency

Alport syndrome

Alstrom syndrome

Alternating Hemiplegia

Alzheimer's Disease

Amyloidosis

Amyotrophic Lateral Sclerosis (ALS) (see Motor Neurone Disease)

Androgen Insensitivity syndrome (AIS)

Anencephaly

Angelman Syndrome

Aniridia

Ankylosing Spondylitis

Anodontia

Anorectal Malformations

Anticardiolipin AB Type

Antiphospholipid Antibody syndrome (APLS)

Aortic Dissection

Apert syndrome

Aplasia Cutis Congenita

Aplastic Anaemia

Argininosuccinic Aciduria

Arnold-Chiari Malformation

Arthrogryposis

ARX Condition

Aspergers syndrome

Asphyxiating Thoracic Dystrophy (Jeune Syndrome)

Asthma

Ataxia-Telangiectasia

ATR16 Syndrome

Atypical Haemolytic Uraemic Syndrome (aHUS)

Autism Spectrum

Autoimmune Inflammatory Arthropathy

Autoimmune kidney disease

Autoimmune Lymphoproliferative Syndrome (ALPS)

Autoinflammatory Diseases

Autosomal Recessive Primary Microcephaly (MCPH, Microcephaly Vera)

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Axenfeld's Anomaly

B

Baller-Gerold syndrome

Bannayan-Riley-Ruvalcaba syndrome

Bannayan-Zonana Syndrome

Bardet-Biedl Syndrome

Barth syndrome

Bartter syndrome

Batten Disease

Beals Syndrome (Congenital contractural arachnodactyly)

Beckers Muscular Dystrophy

Beckwith-Wiedemann syndrome

Behçets Syndrome

Behr Syndrome

Benign Essential Tremour

Berardinelli syndrome

Bethlam Myopathy

Bilateral Iris Coloboma

Birt-Hogg-Dubé syndrome

Bladder exstrophy, epispadias, cloacal exstrophy, hypospadias (BEECH)

Blake Pouch Cyst

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES)

Bloom Syndrome

Blount’s Disease

Borjeson-Forssman-Lehmann syndrome

BRCA 1 and BRCA 2 Gene Faults

Brown syndrome

Brown Vialetto Van Laere syndrome

Budd-Chiari Syndrome

C

C Syndrome (Opitz Trigonocephaly)

Caffey's Familial Neurovisceral Lipidosis

Caffey's Generalized Gangliosidosis

Caffey's Pseudo-Hurler syndrome

Campomelic Dysplasia

Canavans Disease

Cantu Syndrome

Cardiac Conditions

Cardiofaciocutaneous Syndrome (CFC)

Cardiomyopathy

Carnitine palmitoyltransferase II deficiency

Caroli Syndrome

Carpal-Tarsal Osteolysis

Carpenter Syndrome

Cartilage–hair hypoplasia (CHH)

Castleman Disease

Cavum Septum Pellucidium

CD95

CDKL5 (Cyclin-Dependent Kinase-Like 5)

Central Core Disease

Cerebellar Ataxia Atrophy

Cerebellar Atrophy

Cerebellar Hypoplasia

Cerebrocostomandibular syndrome

Ceroide Neuronal Phase 1

Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Type II

CHARGE Syndrome

Choanal Atresia

Chondrodysplasia

Chorioretinal coloboma

Choroideremia (CHM)

Chromhidrosis

Chronic Granulomatous Disorder

Chronic Recurrent Multifocal Osteomyelitis

Citrullinaemia

Cleft Palate & Cleft Lip

Cleidocranial Dysplasia

Coats Disease

Cobalamin E, C/G Deficiency

Cobb Syndrome

Cockayne Syndrome

Coffin-Lowry Syndrome

Coffin-Siris Syndrome

Cohen Syndrome

Common Variable Immunodeficiency (CVID)

Cone Dystrophy

Cone-Rod Dystrophies

Congenital Adrenal Hyperplasia (CAH)

Congenital Alopecia Totalis

Congenital Anodontia

Congenital Cerebellum Hyperplasia

Congenital Cone Dystrophy

Congenital Cyto Megalovirus

Congenital Disorder of Glycosylation (CDG)

Congenital Heart Disease

Congenital hemiatrophy

Congenital Hips Dislocation

Congenital Hyperargininemia

Congenital Hyperinsulinism

Congenital Hypertrichosis (Ambras Syndrome)

Congenital Hypothyroidism

Congenital Lipodystrophy

Congenital Muscular Dystrophy (CMD)

Congenital Myopathy

Congenital Myotonic Dystrophy

Congenital Nemaline Myopathy

Congenital Preauricular Sinus

Congenital Protein C Deficiency

Congenital Prune Belly Syndrome

Congenital Sucrose Isomaltase Deficiency

Connective Tissue Disease

Connective Tissue Dysplasia

Cooley's Anaemia – Thalassaemia Major

Cornelia-de Lange Syndrome

Corticobasal Degeneration

Costello Syndrome

Cowden Syndrome (See PTEN Hamartoma Tumor Syndrome)

Craniofacial Conditions

Craniofrontonasal Dysplasia

Craniosynostosis Syndrome

Creutzfeldt-Jakob Disease

Cri-Du-Chat Syndrome

Crohn’s Disease

Crouzon Syndrome

Cryoglobulinemia

Cryopin Associated Periodic Syndromes (CAPS)

Cullin-4B Mutation

Cushing Syndrome

Cutis laxa Chlq2-1 micro del

Cutis marmorata telangiectatica congenita (CMTC)

Cyclic Vomiting Syndrome

Cylindrical Spiral Myopathy

Cystic Fibrosis

Cystinosis

Cystinuria

Cytochrome C. Oxidase Deficiency

D

D2 Hydroxyglutaric Aciduria

Dandy-Walker Malformation

De Barsy Syndrome

De Grouchy Syndrome (18q deletion)

Deafness

Degos Disease

Dejerine-Sottas Disease

Denys-Drash Syndrome

Dercums Disease

Desbuquois Syndrome

Developmental Verbal Dyspraxia

Diastematomyelia

Dominant Optic Atrophy (Kjer's Atrophy)

Dorsal pancreatic agenesis

Double Y Syndrome

Down Syndrome (Trisomy 21)

Dravet Syndrome

Duane Syndrome

Dubowitz Syndrome

Duchenne Muscular Dystrophy

Duncan Syndrome

Dupuytren's Contracture

Dysautonomia

Dyschondrosteosis

Dyskeratosis Congenita

Dyspraxia

Dystonia

Dystrophic Epidermolysis

E

Ebstein's Anomaly of the Tricuspid Valve

Ectodermal Dysplasia

Ectrodactyly

Ectrodactyly Ectodermal Dysplasia - Cleft Syndrome (EED)

Edward Syndrome (Trisomy 18)

Ehlers-Danlos Syndrome

Ellis-Van Creveld Syndrome

Emanual Syndrome

Emery Dreifuss Muscular Dystrophy

Emphysema

Encephalocraniocutaneous Lipomatosis

Eosinophilic Disorders

Epidermal Nevus Syndrome

Epidermolysis Bullosa (Dystrophic)

Epilepsy

Epstein anomaly

Erb's Palsy

Erdheim-Chester Disease

Erythromelalgia

Erythropoietic Porphyria

Erythropoietic Protoporphyria (EPP)

Evans Syndrome

F

Fabry Disease

Facial Haemangioma

Facial Paralysis / Moebius Syndrome

Facioscapulohumeral Muscular Dystrophy (FSHD)

Factor V Leiden Thrombophilia

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)

Familial Ovarian Cancer

Familial Psoriasis (PSORS2)

Familial Spastic Paraparesis

Fanconi Anaemia

Fanconi Bickle Syndrome (FBS)

Farber Lipogranulomatosis

Fatty Oxidation Disorders

Fazio-Londe Syndrome

Fetal AntiConvulsant Syndromes (FACS)

Fetal Valproate

FG Syndrome (Opitz–Kaveggia syndrome)

Fibrodysplasia Ossificans Progressiva

Fibromuscular Dysplasia (FMD)

Fibromyalgia

Fibrous Dysplasia

Fibula Hemimelia

Foetal Alcohol Syndrome

Foetal valproate syndrome (FVS)

FOX P2 gene mutation

FOXG1 Syndrome

FOXP1

Fragile X

Fraser Syndrome

Friedreich's Ataxia

Frontonasal Dysplasia

Fryns Syndrome

Fucosidosis

Fukuyama Syndrome

Fumarase Deficiency (Fumaric Aciduria, Polygamist Down's)

G

Galactosaemia

Gardner Syndrome

Gaucher Disease

Gelastic Seizures

Giant Axonal Neuropathy

Gilbert's Syndrome

Gitelman Syndrome

Global Development delay

Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency

Glucose Transporter Type I Deficiency Syndrome (Glut1 Deficiency, Glut1 DS, G1D, or De Vivo Disease)

Glutaric Acidemia Type 1

Glycogen Storage Diseases

GM1 Gangliosidosis

GM1 Gangliosidosis Type 1

Goldenhar Syndrome

Goltz Syndrome

Gorlin Syndrome

Graves Disease

Growth Affected Conditions

Guanidinoacetate Methyltransferase Deficiency

Guillain-Barre Syndrome

Gyrate Atrophy

H

Haemangioma

Haemochromatosis

Haemophilia

Hailey-Hailey Disease

Hajdu-Cheney Syndrome

Hallermann-Streiff Syndrome

Hallervorden-Spatz Disease

Hartnup Disease

Hemiconvulsion Hemiplegia Epilepsy (HHE)

Hemihypertrophy

Hemimegalencephaly

Hemiplegia

Hereditary Angioedema (HAE)

Hereditary Fructose Intolerance

Hereditary Haemorrhagic Telangiectasia (Rendu Osler Weber Syndrome)

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Hereditary motor and sensory neuropathies (HMSN)

Hereditary Multiple Exostoses

Hereditary Non-Polyposis Colorectal Cancer

Hereditary Papillary Renal Cell Carcinoma

Hereditary Spastic Paraplegia

Hereditary Spherocytosis

Hermansky Pudlak Syndrome

Het Werner Syndrome

Hexokinase Deficiency

Hirschsprung Disease

Holoprosencephaly

Holt Oram Syndrome

Holt-Oram Syndrome

Homocystinuria

Homolateral Brain Syndrome

Horner's syndrome

Hunter Syndrome (MPSII)

Huntington’s Disease

Hydranencephaly

Hydrocephalus

Hydronephrosis

Hyper IGE Syndrome

Hyper IgE Syndrome (HIES)

Hyperargininaemia

Hyperekplexia

Hyperimmunoglobulinemia D with Periodic Fever Syndrome (HIDS)

Hypertrophic Cardiomyopathy

Hypoadrenal Hyperthyroidism

Hypochondroplasia

Hypogammaglobulinemia

Hypohidrotic Ectodermal Dysplasia

Hypomelanosis of Ito (HI)

Hypomyelination with Brain stem and Spinal cord involvement and Leg spasticity (HBSL)

Hypophosphatasia (HPP)

Hypophosphatemic Bone Disease (HBD)

Hypophosphatemic Rickets

Hypopituitarism

Hypoplastic Left Heart Syndrome

Hypoplastic Left Heart Syndrome

Hypotension Orthostatic

Hypothyroidism

I

Idiopathic Pulmonary Fibrosis

Idiopathic Thrombocytopenic Purpura (immune thrombocytopenia)

Immunodeficiency

Incontinentia Pigmenti

Infantile Neuroaxonal Dystrophy (INAD)

Intestinal Failure

Intracranial Hypertension

Intrauterine Growth Restriction (IUGR)

Irlen Syndrome

Irlen Syndrome

Isolated Congenital Anosmia

Ivemark Syndrome

J

Jacobsen Syndrome (11q deletion)

Jeune Syndrome

Job Syndrome (Hyperimmunoglobulin E (hyper IgE) Syndrome)

Johanson-Blizzard Syndrome

Joubert Syndrome

Junctional Epidermolysis Bullosa

Juvenile Diabetes

Juvenile Hyaline Fibromatosis

Juvenile Systemic Granulomatosis

K

Kabuki Syndrome

Kallmann Syndrome

Kawasaki Syndrome

Kearns Sayre Syndrome

Keratosis Follicularis Spinulosa Decalvans

Kidney Conditions

Kleefstra Syndrome (Ch 9q 34 deletion)

Klinefelter Syndrome (47, XXY)

Klippel Trenaunay Syndrome

Klippel-Feil Syndrome

Kok Disease

Koolen-de Vries Syndrome

Krabbe Disease

Kyphomelic Dysplasia

L

Lacrimo-Auriculo-Dento-Digital syndrome (LADD) Syndrome

Lambert Eaton Myasthenic Syndrome (LEMS)

Landau-Kleffner Syndrome

Langer-Giedion Syndrome

Langerhans Cells Histiocytosis

Larsen Syndrome

Laurence-Moon-Biedl

Laurence–Moon syndrome (LMS)

Learning Difficulties

Lebers Optic Atrophy

Leigh Disease

Lennox-Gastaut syndrome

Leopard Syndrome

Leri-Weill Syndrome

Lesch Nyhan Syndrome

Leukodystrophy

Li Fraumeni syndrome

Limb Differences (Dysmelia)

Limb-Girdle Muscular Dystrophy

Lipodystrophy

Lipoprotein Lipase Deficiency

Lissencephaly

Lissencephaly with Cerebellar Hypoplasia

Long QT Syndrome

Long-chain-3-hydroxyacyl coenzyme A dehydrogenase Deficiency

Lowe Syndrome

LPIN1 Gene Mutation

Lujan-Fryns Syndrome

Lupus

Lymphangioleiomyomatosis (LAM)

Lymphas Genphasia

Lymphoedema

Lynch Syndrome

Lysosomal Diseases

M

Machado Joseph Disease

Maffucci Syndrome

Majeed syndrome

Malignant Infantile Osteopetrosis

Maple Syrup Urine Disease

Marfan syndrome

Marinesco-Sjogren Syndrome (or Marinescu-Sjogren Syndrome)

Marshall syndrome

Mastocytosis

Mayer-Rokitansky Kuster-Hauser Syndrome (Müllerian agenesis)

McCune-Albright syndrome

MECP2 Duplication Syndrome (Xq28 duplication syndrome)

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)

Megalocornea Mental Retardation

MELAS syndrome

Melkersson–Rosenthal Syndrome

Meniere's Disease

Menkes syndrome

Mental Illness

Merosin-Deficient Congenital Muscular Dystrophy (MDC1A)

Merrf Syndrome

Mesothelioma Cancer

Metabolic Conditions

Metachondromatosis

Metachromatic Leukodystrophy

Metaphyseal Chondrodysplasia of the Schmid type

Metatropic Skeletal Dysplasia

Methemoglobinemia

Methylmalonic Acidemia (MMA)

Methylmalonic Acidemia (MMA) Vit B responsive

Mevalonate Aciduria (MA)

Microcephaly

Microcephaly Vera (see Autosomal Recessive Primary Microcephaly)

Microphthalmia

Miller-Dieker Syndrome

Milroy's disease

Mitochondrial Cytopathy

Mitochondrial Disease

Mitochondrial Energy Disorder

Mitochondrial Myopathies

Mitochondrial Respitatory Chain Disorder

Mixed Gonadal Dysgenesis Hypospadias

Moebius Syndrome

Monomelic Macrodystrophia lipomatosa

Motor Dyspraxia

Motor Neurone Disease

Mowat Wilson Syndrome

Moyamoya Disease

MTHFR (methylene-tetrahydrofolate reductase)

Muckle-Wells Syndrome

Mucolipidosis (ML)

Mucopolysaccharidosis (MPS)

Muir-Torre Syndrome

Mulibrey Nanism Syndrome

Mullerian Duct Agenesis

Multi-Minicore Disease

Multiple Endocrine Neoplasia 2a (MEN 2A)

Multiple Endocrine Neoplasia 2B (MEN 2B)

Multiple Endocrine Neoplasia Type 1 (MEN 1)

Multiple Epiphyseal Dysplasia

Multiple epiphyseal Dysplasia

Multiple Epiphyseal Dysplasia (MED)

Multiple Exostoses

Multiple Myeloma

Multiple Sclerosis

Multiple System Atrophy (Shy Drager Syndrome)

MURCS Association ((MU)llerian, (R)enal, (C)ervicothoracic (S)omite abnormalities)

Muscular Dystrophy

Myasthenia Gravis

Myasthenia Gravis

Myofibrillar Myopathy

Myotonia Congenita

Myotonic Dystrophy

Myotubular Myopathy

N

Nager & Miller Syndrome

Nail Patella Syndrome

Nakajo-Nishimura Syndrome

Narcolepsy

Neonatal-Onset Multisystem Inflammatory Disease (NOMID)

Netherton Syndrome

Neuroacanthocytosis

Neurodegeneration with Brain Iron Accumulation (NBIA)

Neurofibromatosis (NF)

Neuronal Intestinal Dysplasia (NID)

Neuronal migration disorder (NMD)

Neurosarcoidosis

NF1 deletion syndrome

Nicolaides-Baraitser syndrome

Niemann-Pick Disease

Niemann-Pick Disease Type C

Nonketotic Hyperglycinaemia

Noonan Syndrome

Norrie Disease

Nystagmus

O

Ocular Myasthenia Gravis

Oculo-Dento-Digital Dysplasia (ODDD)

Oculomotor apraxia Cogan type

Oculopharyngeal Muscular Dystrophy (OPMD)

Ohdo Syndrome

Olivopontocerebellar Atrophy

Ollier's Disease (Multiple Enchondromatosis)

Ophthalmia: Anophthalmia & Microphthalmia

Oral-Facial-Digital Syndrome (OFDS)

Orbital Cyst

Orbital Cyst

Organic Acidemia

Ornithine Transcarbamylase Deficiency

Orthostatic tremors

Osteogenesis Imperfecta

Osteoperosis

Osteopetrosis

Oxalosis & Hyperoxaluria

Oxalosis & Hyperoxaluria

P

Pachygyria

Pachyonychia Congenita

PACS1 syndrome

Paget’s Disease

Pallister-Hall Syndrome (PHS)

Pallister-Killian Syndrome

Palmoplantar Keratodermas (PPK)

Paraneoplastic Neurological syndrome (PNS)

Paroxysmal hypertension (pseudopheochromocytoma)

Paroxysmal Kinesigenic Choreoathetosis

Paroxysmal Nocturnal Haemoglobinuria

Partington Syndrome

Patau Syndrome (Trisomy 13)

Peho Syndrome

Pelizaeus-Merzbacher Disease

Pemphigus and Pemphigoid

Pena-Shokeir Syndrome Type 1

Pendred Syndrome

Pentasomy X (5X)

Peripheral Neuropathy

Persistant Hyperplastic Primary Vitreous

Persistent hyperinsulinemic hypoglycemia of infancy (PHHI)

Perthes Disease

Peutz-Jeghers Syndrome

Pfieffer Syndrome

Phelan-McDermid Syndrome (22q13 deletion)

Phenylketonuria (PKU)

Picks Disease

Pierre Robin Syndrome

PIGN Mutation

Pitt Hopkins syndrome (PTHS)

Pituitary Conditions

Poland Syndrome

Polycystic Kidney Disease

Polycythaemia

Polymicrogyria (PMG)

Polyostotic Fibrous Dysplasia

Pompe Disease

Pontine Tegmental Cap Dysplasia

Popliteal Pterygium Syndrome

Porphyria

Postural Orthostatic Tachycardia Syndrome (POTS)

Potocki-Lupski Syndrome (Dup 17p11.2)

Potter Syndrome

Prader-Willi Syndrome

Primary ciliary dyskinesia (PCD)

Primary ciliary dyskinesia (PCD)

Primary Immune Deficiency

Primary Orthostatic tremor

Primary Sclerosing Cholangitis (PSC)

Prinzmetal's Angina

Pristanic Acid Disorder

Progressive Familial Intrahepatic Cholestasis (PFIC)

Progressive Familial Intrahepatic Cholestasis Type 3 (PFIC 3)

Progressive Myoclonic Epilepsy

Progressive Supranuclear Palsy (Richardson-Steele-Olszewski Syndrome)

Propionic Acidemia

Proteus Syndrome

Pseudohypoparathyroidism

Pseudomyxoma Peritonei (PMP)

Pseudoxanthoma Elasticum (PXE)

Psoriasis

Psoriatic Arthritis

PTEN Hamartoma Tumor Syndrome (PHTS) (AKA Cowden Syndrome)

Pulmonary Hypertension

Pycnodysostosis

Pyridoxine Dependency

Pyruvate Dehydrogenase Complex Deficiency (PDCD)

Pyruvate Kinase Deficiency

Q

R

Ramsay Hunt Syndrome

Raynaud Disease

Reflex Sympathetic Dystrophy

Refsum Disease

Reifenstein Syndrome

Restless Legs syndrome (RLS)

Retinitis Pigmentosa and related conditions

Retinoblastoma

Rett Syndrome

RNF135 overgrowth syndrome

RNF135 overgrowth syndrome

Robinow syndrome

Rubinstein-Taybi Syndrome

Russell-Silver Syndrome

S

Saethre-Chotzen Syndrome

Sandhoff Disease

Sanfilippo Disease (Mucopolysaccharidosis III (MPS-III) )

Sarcoidosis

Scaphoid Head

Schinzel Giedion Syndrome

Schizencephaly

Schizophrenia

Schmid Type Metaphyseal Chondrodysplasia

Schnitzler Syndrome

Schwannomatosis

Scleroderma

Seckel Syndrome

Secondary Microcephaly

Septo-optic dysplasia (SOD, de Morsier syndrome)

Severe Combined Immunodeficiency (SCID)

Sex Chromosome Aneuploidies

Short Stature and Skeletal Dysplasia

Shprintzen Syndrome (Velo Facial Cardio syndrome - 22q11)

Shwachman-Diamond Syndrome

Sideroblastic anaemia

Simpson Golabi Behmel Syndrome

Sjorgren's Syndrome

Sjorgren-Larsson Syndrome

SLC29A3 Spectrum Disorder

Smith Magenis Syndrome (SMS)

Smith-Lemli-Opitz Syndrome

SNX27 (Sorting nexin family member 27) mutations

Sotos Syndrome

Spasmodic Torticollis (Cervical dystonia)

Spina Bifida

Spinal Muscular Atrophy

Spinocerebellar Ataxia

Spondylo-meta-epiphyseal Dysplasia

Spondylocostal Dysplasia

Spondyloepiphyseal Dysplasia

Spondyloepiphyseal dysplasia congenita (SEDC)

Spondyloepiphyseal dysplasia congenita (SEDC)

Spondylometaphyseal Dysplasia

Stargardt's Disease (Fundus Flavimaculatus)

Stevens Johnson Syndrome

Stickler Syndrome

Stiff Person Syndrome

Stillbirth, Neonatal Death and Miscarriage

Sturge Weber Syndrome

Stuttering

Subacute Sclerosing Panencephalitis

Succinic Semialdehyde Dehydrogenase Deficiency (SSADH)

Sudden Arrhythmia Death Syndromes (SADS)

Syndromes Without a Name (SWAN)

Systemic Lupus Erythematosus

T

TAR Syndrome (thrombocytopenia with absent radius)

Tarlov Cyst

Tay Sachs Disease

Tay syndrome (congenital ichthyosis with trichothiodystrophy)

Tetrasomy 9p Osteoporosis

Thalassaemia

Thomson's Disease (Myotonia congenita)

Thoracic Aortic Aneurysm dissection (TAAD)

Tibial Hemimelia

Tourette Syndrome

Tourettic OCD

Townes-Brocks Syndrome

Treacher-Collins Syndrome

Trichorhinophalangeal Syndrome (TRPS)

Trichothiodystrophy

Trigeminal Neuralgia

Trimethylaminuria (TMAU, Fish Odour Syndrome)

Triple A Syndrome (Allgrove syndrome)

Triple X mosaicism

Triple X Syndrome (47, XXX)

Tuberous Sclerosis

Tumor Necrosis Factor Receptor-Associated Periodic Fever Syndrome (TRAPS)

Turner Syndrome

Tyrosine Anaemia

U

Ulcerative Colitis

Undiagnosed Conditions

Usher Syndrome

V

VACTERL Association

Vanishing Testes syndrome

Vasculitis

Vater Syndrome

Velo-Cardio-Facial Syndrome (22q11.2 deletion, DiGeorge Syndrome, Opitz FG)

Venous Lymphatic Malformation

Ventricular Septal Defect

Very long chain Acyl-Co A Dehydrogenase Deficiency

Vogt-Koyanagi-Harada Disease

Von Hippel-Lindau Syndrome

Von Willer Brand Disease

W

WAGR Syndrome (11p Deletion)

Waldenstrom Macroglobulinemia (WM)

Weaver Syndrome

Weill-Marchesani Syndrome

Werdnig-Hoffman Syndrome

West Syndrome

WHIM Syndrome

Wiedemann-Rautenstrauch Syndrome

Williams Syndrome

Wilson’s Disease

Wiskott-Aldrich Syndrome

Wolf Hirschhorn Syndrome

Wolff-Parkinson-White Syndrome

Wolmans Disease

X

X - linked myopathy

X linked Hydrocephalus

X-linked Agammaglobulinemia

X-linked Agammaglobulinemia

X-linked Hypophosphatemia

X-linked intellectual disability

X-linked lymphoproliferative disease (XLP)

X-linked Myopathy

x-linked myopathy malignant hyperthermia

X-linked Retinoschisis

Xeroderma Pigmentosa

XYY Syndrome

Y

Young-Simpson Syndrome

Z

Zellweger Syndrome

4

48, XXXY Syndrome

48, XXYY Syndrome

49, XXXXY Syndrome


What can Genetic Alliance Australia do for me?

<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>

What is a genetic condition?

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.

Is there a support group for my genetic condition?

Take a look at our list of support groups in our list of genetic conditions, or contact Genetic Alliance on +61 2 9295 8359.

List of genetic conditions

What funding is available?

Centrelink provides funding for carers and people living with genetic conditions.

Click here to visit the Centrelink website

How many families in Australasia are affected by a genetic condition?

■ 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.

Genetic Counselling FAQs

<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>


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