Health Topics
URL of this page: https://medlineplus.gov/geneticsbirthdefects.html
- 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's 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
- Cloning
- Color 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
- 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's 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
- Heart Defects see Congenital Heart Defects
- Heart Diseases, Congenital see Congenital Heart Defects
- Heart Murmur see Congenital Heart Defects
- Hemochromatosis
- Hemoglobin SS Disease see Sickle Cell Disease
- Hemophilia
- 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's 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 Medicines
- Prenatal 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