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
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
Cloning
Colour Blindness
Congenital Heart Defects
Copper Storage Disease see Wilson Disease
Craniofacial Abnormalities
Craniosynostosis see Craniofacial Abnormalities
Down Syndrome
Duchenne Muscular Dystrophy see Muscular Dystrophy
Dwarfism
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
Hemochromatosis
Hepatolenticular Degeneration see Wilson Disease
Human Genome Project see Genes and Gene Therapy
Huntington’s Disease
Hydrocephalus
Hypermobility Syndrome see Ehlers-Danlos Syndrome
Iron Overload Disease see Hemochromatosis
Klinefelter Syndrome
Leukodystrophies
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
Neurofibromatosis
Newborn Screening
Niemann-Pick Disease see Genetic Brain Disorders
Open Spine see Spina Bifida
Osteogenesis Imperfecta
Paternity Testing see Genetic Testing
Phenylketonuria
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
