Genetic Disorders
1. Down Syndrome (Trisomy 21):
- Caused by an extra copy of chromosome 21.
- Symptoms: Intellectual disability, distinct facial features, and developmental delays.
2. Cystic Fibrosis:
- Caused by mutations in the CFTR gene.
- Symptoms: Thick mucus buildup in the lungs and digestive system, leading to respiratory and digestive issues.
3. Sickle Cell Disease:
- Caused by mutations in the HBB gene affecting hemoglobin.
- Symptoms: Abnormally shaped red blood cells, leading to anemia, pain, and organ damage.
4. Huntington's Disease:
- Caused by a genetic mutation on chromosome 4.
- Symptoms: Progressive degeneration of nerve cells in the brain, leading to movement, cognitive, and psychiatric disorders.
5. Hemophilia:
- Caused by mutations in genes responsible for blood clotting (typically on the X chromosome).
- Symptoms: Difficulty in clotting blood, leading to excessive bleeding and bruising.
6. Marfan Syndrome:
- Caused by mutations in the FBN1 gene affecting connective tissue.
- Symptoms: Tall stature, long limbs, heart defects, and vision problems.
7. Tay-Sachs Disease:
- Caused by a mutation in the HEXA gene.
- Symptoms: Progressive neurological degeneration, leading to muscle weakness, loss of motor skills, and early death.
8. Phenylketonuria (PKU):
- Caused by a mutation in the PAH gene affecting the metabolism of phenylalanine.
- Symptoms: Intellectual disability, developmental delays, and behavioral problems if untreated.
9. Fragile X Syndrome:
- Caused by a mutation in the FMR1 gene.
- Symptoms: Intellectual disability, behavioral issues, and physical features such as a long face and large ears.
10. Thalassemia:
- Caused by mutations affecting hemoglobin production.
- Symptoms: Anemia, fatigue, and in severe cases, growth problems and organ damage.
These disorders are inherited and vary in symptoms and severity, often requiring lifelong management and treatment.