Genetic and Congenital Disorders

  • Chromosomal:
    • Down syndrome
    • Turner syndrome
    • Klinefelter syndrome
    • Trisomy 18 & 13
  • Single-gene:
    • Cystic fibrosis
    • Sickle cell anemia
    • Huntington's disease
    • Marfan syndrome
    • Hemophilia
    • Fragile X
    • Muscular dystrophy
    • Tay-Sachs
  • Multifactorial with genetic predisposition (Many cancers, Heart disease, Type 2 diabetes, Asthma, Autoimmune diseases, Mental health disorders)
  • Congenital malformations:
    • Heart defects
    • Neural tube defects
    • Cleft lip/palate
    • Limb malformations
    • Hypospadias/epispadias
    • Congenital hip dysplasia

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