Scroll Top

Genetics – Birth Defects

Genetics – Birth Defects

Abnormalities see Birth Defects

Achondroplasia see Dwarfism

Adrenoleukodystrophy see Leukodystrophies

Alpha-1 Antitrypsin Deficiency

Amniocentesis see Prenatal Testing

Anencephaly see Neural Tube Defects

Arnold-Chiari Malformation see Chiari Malformation

Ataxia see Friedreich Ataxia

Ataxia Telangiectasia

Birth Defects

Blood Coagulation Disorders see Hemophilia

Brain Disorders, Inborn Genetic see Genetic Brain Disorders

Brain Malformations

Canavan Disease see Leukodystrophies

Cephalic Disorders see Brain Malformations

Cerebral Palsy

Charcot-Marie-Tooth Disease

Chiari Malformation

Chorionic Villi Sampling see Prenatal Testing

Cleft Lip and Palate

Cleft Palate see Cleft Lip and Palate

Cleft Spine see Spina Bifida


Colour Blindness

Congenital Heart Defects

Copper Storage Disease see Wilson Disease

Craniofacial Abnormalities

Craniosynostosis see Craniofacial Abnormalities

Cystic Fibrosis

Down Syndrome

Duchenne Muscular Dystrophy see Muscular Dystrophy


Ehlers-Danlos Syndrome

Family History

FAS see Fetal Alcohol Spectrum Disorders

Fetal Alcohol Spectrum Disorders

Fetal Alcohol Syndrome see Fetal Alcohol Spectrum Disorders

Fetal Ultrasound see Prenatal Testing

Fragile X Syndrome

FRAXA see Fragile X Syndrome

Friedreich Ataxia

G6PD Deficiency

Gaucher Disease

Genes and Gene Therapy

Genetic Brain Disorders

Genetic Counseling

Genetic Disorders

Genetic Testing

Glucose-6-phosphate Dehydrogenase Deficiency see G6PD Deficiency

Haemoglobin SS Disease see Sickle Cell Disease

HaemophiliaHeart Defects see Congenital Heart Defects

Heart Diseases, Congenital see Congenital Heart Defects

Heart Murmur see Congenital Heart Defects


Hepatolenticular Degeneration see Wilson Disease

Human Genome Project see Genes and Gene Therapy

Huntington’s Disease


Hypermobility Syndrome see Ehlers-Danlos Syndrome

Iron Overload Disease see Hemochromatosis

Klinefelter Syndrome


Maple Syrup Urine Disease see Genetic Brain Disorders

Marfan Syndrome

Medicines and Pregnancy see Pregnancy and Medicines

Metabolic Disorders

Mucolipidoses see Metabolic Disorders

Muscular Dystrophy

Myelomeningocele see Spina Bifida

Neural Tube Defects


Newborn Screening

Niemann-Pick Disease see Genetic Brain Disorders

Open Spine see Spina Bifida

Osteogenesis Imperfecta

Paternity Testing see Genetic Testing


PKU see Phenylketonuria

Positional Plagiocephaly see Craniofacial Abnormalities

Prader-Willi Syndrome

Pregnancy and MedicinesPrenatal Testing

Progeria see Genetic Disorders

Rare Diseases

Rett Syndrome

Screening, Newborn see Newborn Screening

Sickle Cell Anemia see Sickle Cell Disease

Sickle Cell Disease

SMA see Spinal Muscular Atrophy

Spina Bifida

Spinal Muscular Atrophy

Tay-Sachs Disease

Tourette Syndrome

Treacher-Collins Syndrome see Craniofacial Abnormalities

Trisomy 21 see Down Syndrome

TSC see Tuberous Sclerosis

Tuberous Sclerosis

Turner Syndrome

Usher Syndrome

VHL see Von Hippel-Lindau Disease

Von Hippel-Lindau Disease

von Recklinghausen’s Disease see Neurofibromatosis

Wilson Disease

Genetics – Birth Defects

Genetics – Birth defects can affect a person’s overall health as well as how their body develops and functions. A genetic ailment is any illness brought on by a change in a gene (also called a genetic disorder). Certain chromosome disorders can lead to certain genetic diseases.