Genetic Conditions
Information Sheets
In appropriate circumstances we are able to produce Information Sheets about specific genetic conditions for patients, families and professionals in Australia. These materials are produced on request. Fact sheets produced by the Centre are available for the genetic conditions below that have asterisks next to them.
| 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 ***
Acoustic Neuroma
Acrocallosal Syndrome
Acromegaly
Adams Oliver Syndrome
Addison Disease
Adrenoleukodystrophy
Agenesis Of Corpus Callosum
Aicardi Syndrome
Alagille Syndrome
Albinism
Albright Hereditary Osteodystrophy
Alexander Disease
Alopecia
Alpers Syndrome
Alpha 1 Antitrypsin Deficiency
Alpha-Thalassaemia X Linked Mental Retardation Syndrome
Alpha-Thalassemia Mental Retardation Syndrome Deletion ATR 16
Alport Syndrome
Alstrom Syndrome
Alzheimer Disease ***
Amyotrophic Lateral Sclerosis
Androgen Insensitivity Syndzrome
Anencephaly ***
Angelman Syndrome
Angioedema
Ankylosing Spondylitis
Apert Syndrome
Aplasia Cutis Congenita
Argininosuccinic Aciduria
Arthrogryposis Multiplex
Asperger Syndrome
Ataxia Telangiectasia
Autism ***
Autoimmune Lymphoproliferative Syndrome
Autoimmune Polyglandular Disease Type 1
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B
Bannayan Riley Ruvalcaba Syndrome
Bardet Biedl Syndrome
Bartter Syndrome
Batten Disease
Beckwith Wiedemann Syndrome
Behcet Syndrome
Behr Syndrome
Bells Palsy
Benign Essential Tremor
Bipolar Disorder ***
Blackfan Diamond Anemia
Blepharophimosis Ptosis Epicanthus Inversus Syndrome
Bloom Syndrome
Borjeson Forssman Lehmann Syndrome
Bowel Cancer ***
Branchiootorenal Dysplasia
Breast Cancer ***
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C
Cadasil
Camptomelic Dysplasia
Cancer ***
Cardiac Conditions *** (Genetics Fact Sheets 53, 54, 55, 56)
Cardio Auditory Syndrome
Cardiovascular Disease *** (Genetics Fact Sheets 53, 54, 55, 56)
Carnitine Deficiency Syndromes
Carpal Tunnel Syndrome
Carpenter Syndrome
Cartilage Hair Hypoplasia
Cat Eye Syndrome
Cavernous Malformations
Ccc Syndrome
Central Core Disease
Cerebellar Agenesis
Cerebral Palsy
Cerebro Oculo Facio Skeletal Syndrome
Charcot Marie Tooth Disease
Charge Association
Choroideremia
Chromosome 1 Deletion P36 Syndrome
Chromosome 4 Trisomy 4p
Chromosome 5 Trisomy 5p
Chromosome 8 Trisomy
Chromosome 9 Monosomy 9p22
Chromosome 9 Trisomy
Chromosome 10 Monosomy 10p
Chromosome 10 Trisomy 10q
Chromosome 13 Deletion Syndrome
Chromosome 13 Trisomy ***
Chromosome 14 Trisomy Mosaic
Chromosome 15 Trisomy 15q
Chromosome 18 Monosomy 18p
Chromosome 18 Ring
Chromosome 18 Trisomy ***
Chromosome 18 Deletion 18q Syndrome
Chromosome 21 Ring
Chromosome 21 Trisomy ***
Chromosome 22 Trisomy
Chromosome 22 Ring
Chromosome 45X Turner Syndrome ***
Chromosome XXX Syndrome
Chromosome XXX Syndrome
Chromosome XXX Klinefelter Syndrome ***
Chromosome XYY Syndrome
Chromosome XXYY Syndrome
Chronic Granulomatous Disease
Cleft Lip And Palate
Cleidocranial Dysplasia
Clubfoot
Cockayne Syndrome
Coeliac Disease
Coffin Lowry Syndrome
Coffin Siris Syndrome
Cohen Syndrome
Colourblindness
Cone-Rod Syndrome
Congenital Adrenal Hyperplasia
Congenital Bilateral Perisylvian Syndrome
Congenital Central Hypoventilation Syndrome
Congenital Fibre Type Disproportion
Congenital Sucrose Iso-Maltose Deficiency
Connective Tissue Disorders
Conradi Hunermann Syndrome
Cornelia De Lange Syndrome
Costello Syndrome
Cowden Syndrome
Craniofrontonasal Dysplasia
Craniosynostosis Syndromes
Creutzfeldt Jakob Disease
Cri Du Chat Syndrome
Crohn Disease
Crouzon Syndrome
Currarino Syndrome
Cushing Syndrome
Cutis Marmorata Telangiectatica Congenita
Cystic Fibrosis ***
Cystic Hygroma
Cystinuria
Cytochrome C Oxidase Deficiency
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D
DD 2 Alpha Hydroxyglutaricaciduria
Dandy Walker Syndrome
Dandy Walker Like Malformation
Darier Disease
De Barsy Syndrome
Denys Drash Syndrome
Dercum Disease
Desbuquois Syndrome
Diabetes ***
Digeorge Syndrome
Door Syndrome
Down Syndrome ***
Drash Syndrome
Duane Syndrome
Dubowitz Syndrome
Dupuytren Contraction
Dyschondrosteosis
Dyskeratosis Congenita
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E
Ectodermal Dysplasia
Ehlers-Danlos Syndrome
Epidermal Nevus Syndrome
Epidermolysis Bullosa
Epilepsy
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F
Fabry Disease
Facioscapulohumeral Muscular Dystrophy
Factor V Leiden
Familial Adenomatous Polyposis (FAP) ***
Familial Dysautonomia
Familial Hypercholesterolaemia ***
Familial Hibernian Fever
Familial Mediterranean Fever
Fanconi Anaemia
Fetal Alcohol Syndrome
Fetal Hydantoin Syndrome
Fg Syndrome
Fibromyalgia
Fragile X Syndrome ***
Fraser Syndrome
Freeman-Sheldon Syndrome
Friedreich Ataxia
Frontonasal Dysplasia
Fryns Syndrome
Fucosidosis
Fukuyama Congenital Muscular Dystrophy
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G
Galactosaemia
Galactosialidosis
Gastroschisis
Gaucher Disease
Gilbert Syndrome
Gitelman Syndrome
Glucose 6 Phosphate Dehydrogenase Deficiency
Goldenhar Syndrome
Goltz Syndrome
Gonadal Dysgensis
Gordon Syndrome
Gorlin Syndrome
Graves Disease
Greig Cephalopolysyndactyly Syndrome
Growth Hormone Deficiency
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H
Haemophilia ***
Hajdu Cheney Syndrome
Hallermann Streiff Syndrome
Hallervorden Spatz Disease
Hanhart Syndrome
Hartnup Problems
Hashimoto Disease
Hay Wells Syndrome
Hemihypertrophy
Hereditary Fructose Intolerance
Hereditary Haemochromatosis ***
Hereditary Haemorrhagic Telangeictasia
Hereditary Spastic Paraplegia
Hereditary Spherocytosis
Hirschsprung Disease
Holoprosencephaly
Holt Oram Syndrome
Homocystinuria
Hunter Syndrome
Huntington Disease ***
Hurler Syndrome
Hydranencephaly
Hydrocephalus
Hypercholesterolaemia ***
Hyperexplexia
Hypochondroplasia
Hypomelanosis Of Ito
Hypoparathyroidism
Hypophosphatemia
Hypoplastic Left Heart Syndrome
Hypothyroidism
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I
Idiopathic Pulmonary Fibrosis
Inclusion Body Myositis
Incontinentia Pigmenti
Intestinal Pseudoobstruction
Ivemark Syndrome
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J
Jacobsen Syndrome
Jeune Syndrome
Job Syndrome
Johanson Blizzard Syndrome
Joubert Syndrome
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K
Kabuki Syndrome
Kallmann Syndrome
Kartagener Syndrome
Kawasaki Disease
Kearns Sayre Syndrome
Kennedy Disease
Keratitis Ichthyosis Deafness Syndrome
Keratosis Follicularis Spinulosa Decalvans
Klinefelter Syndrome ***
Klippel Feil Syndrome
Klippel Trenaunay Weber Syndrome
Krabbe Disease
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L
Landau Kleffner Syndrome
Langer Giedion Syndrome
Larsen Syndrome
Leber Congenital Amaurosis
Leber Optic Atrophy
Leigh Disease
Leopard Syndrome
Lesch Nyhan Syndrome
Leukodystrophy
Lipodystrophy
Lissencephaly
Long QT Syndrome ***
Lowe Syndrome
Lujan Fryns Syndrome
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M
Machado Joseph (Sca 3)
Maffucci Syndrome
Mannosidosis
Marden-Walker Syndrome
Marfan Syndrome
Maroteaux Lamy Syndrome
Maxillonasal Dysplasia
Mccune Albright Syndrome
Meckel Syndrome
Medium Chain Acyl-Coa Dehydrogenase (Mcad)
Melanoma ***
Melas Syndrome
Meniere Disease
Menkes Disease
Merrf Syndrome
Metachromatic Leukodystrophy
Metaphyseal Chondrodysplasia (Schmid)
Metatropic Dysplasia
Methylmalonic Aciduria
Microcephaly
Mobeius Syndrome
Morquio Syndrome
Motor Neurone Disease
Mowat Wilson Syndrome
Moyamoya Disease
Mucopolysaccharidoses
Mullerian Aplasia
Multiple Enchondromatosis
Multiple Endocrine Neoplasia
Multiple Epiphyseal Dysplasia
Multiple Hereditary Exostoses
Multiple Myeloma
Multiple Pterygium Syndrome
Murcs Association
Muscular Dystrophy, Becker ***
Muscular Dystrophy, Duchenne ***
Muscular Dystrophy, Emery Dreifuss
Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Fukuyama
Myasthenia Gravis
Myotonic Dystrophy
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N
Nager Syndrome
Nail Patella Syndrome
Narcolepsy
Nemaline Myopathy
Netherton Syndrome
Neural Tube Defects ***
Neurofibromatosis Type 1 ***
Neurofibromatosis Type 2 ***
Niemann-Pick Disease
Non Ketotic Hyperglycinaemia
Noonan Syndrome
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O
Obsessive Compulsive Disorder
Ocular Albinism
Ocular Motor Apraxia
Oculo Dento Digital Dysplasia
Odho Syndrome
Ollier Disease
Opitz G Bbb Syndrome
Opitz C Trigonocephaly Syndrome
Oral Facial Digital Syndrome Type 1
Ornithine Transcarbamylase Deficiency
Osteogenesis Imperfecta
Osteopetrosis
Ovarian Cancer ***
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P
Pachyonychia Congenita
Paget Disease
Pallister Hall Syndrome
Pallister Killian Syndrome
Parkinson Disease ***
Partington Syndrome
Peho Syndrome
Pelizaeus Merzbacher Disease
Pemphigus Disease
Pena Shokeir Syndrome
Perthes Disease
Peters Anomaly
Peutz Jeghers Syndrome
Peyronie Disease
Pfeiffer Syndrome
Phenylketonuria
Pick Disease
Pierre Robin Syndrome
Poland Syndrome
Polycystic Kidney Disease
Polycystic Ovary Syndrome
Polycythemia Vera
Porphyria
Prader Willi Syndrome
Primary Agammaglobulinaemias
Progressive Supranuclear Palsy
Propionic Acidaemia
Proteus Syndrome
Prune Belly Syndrome
Pseudocholinesterase Deficiency
Pseudoxanthoma Elasticum
Pyruvate Dehydrogenase Deficiency
Pyruvate Kinase Deficiency
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Q
R
Raynaud Disease
Reflex Sympathic Dystrophy
Renpenning Syndrome
Retinitis Pigmentosa
Retinoblastoma
Rett Syndrome
Rieger Syndrome
Robinow Syndrome
Rosenberg Chutorian Syndrome
Rothmund Thomson Syndrome
Rubinstein Taybi Syndrome
Russel Silver Syndrome
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S
Saethre Chotzen Syndrome
Sandhoff Disease
Sanfilippo Syndrome
Schizophrenia ***
Scheuermann Syndrome
Schinzel Giedion Syndrome
Schwartz Jampel Syndrome
Seckel Syndrome
Segawa Syndrome
Septo Optic Dysplasia
Severe Combined Immunodeficiency
Short Stature ***
Shwachman Syndrome
Shy Drager Syndrome
Sialic Acid Storage Disorder
Sickle Cell Anaemia ***
Simpson Golabi Behmel Syndrome
Sjorgen Syndrome
Sjogren Larsson Syndrome
Smith Magenis Syndrome
Smith Lemli Opitz Syndrome
Sotos Syndrome
Spina Bifida ***
Spinal Muscular Atrophy
Spinocerebellar Ataxia
Spondylocostal Dysplasia
Spondoephiphyseal Dysplasia
Spondylometaepiphyseal Dysplasia
Stargardt Disease
Stevens Johnson Syndrome
Stickler Syndrome
Stiff Person Syndrome
Sturge Weber Syndrome
Succinic Semialdehyde Dehydrogenase Deficiency
Syringomyelia
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T
Tay Syndrome
Tay-Sachs Disease ***
Thalassaemia ***
Thanatophoric Dysplasia
Thoracolaryngopelvic Dysplasia
Tourette Syndrome
Townes Brock Syndrome
Treacher Collins Syndrome
Trichorhinophalangeal Syndrome
Trigeminal Neuralgia
Trimethylaminuria
Triploid Syndrome
Trisomy 13 ***
Trisomy 18 ***
Trisomy 21 ***
Tuberous Sclerosis
Turner Syndrome ***
Tyrosinemia
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U
Usher Syndrome
V
Vaginal Atresia
Van Der Woude Syndrome
Vater Association
Velo Cardio Facial Syndrome
Very Long Chain Acyl Coa Dehydrogenase Deficiency
Vitiligo
Von Hippel Lindau Disease
Von Willebrand Disease
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W
Waardenburg Syndrome
Wagr Syndrome
Weaver Syndrome
Wegener Granulomatosis
Weill Marchesani Syndrome
West Syndrome
William Syndrome
Wilson Disease
Wilson Turner Syndrome
Wiskott Aldrich Syndrome
Wolf Hirschhorn Syndrome
Wolf Parkinson White Syndrome
Wolfram Syndrome
Wolman Disease
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X
Xeroderma Pigmentosum
X-Linked Lymphoproliferative Syndrome
Y
Z
Zellweger Syndrome