Genetic Disorders

1. Genetic Disorders Problem Pregnancies

2. Cleft lip/pallet • Anyone can have it. More common in some races • Appears at birth • Birth defect • Roof of mouth (palate) not joined. • Treated with surgeries.

3. Clubfoot • Anyone can have it • Present at birth • Many reasons for it. • Foot and ankle twisted making it impossible to walk. • Treated with surgery and shoes.

4. Color blindness • Sex Linked--Males • Present at birth • Inability to distinguish certain colors. • No cure—learn to accommodate

5. Cystic Fibrosis • Recessive genetic • Usually present at birth—can show up later • Lack an enzyme so mucous builds up especially in lungs and digestion. • Treated with drugs, and pounding on back.

6. Diabetes • Anyone can get it • Occurs at birth or later • Many factors—incl. genetics and overweight • Abnormal metabolism of sugar & insulin • Treated with insulin and diet

7. Down Syndrome • More common to young or older parents or genetic tendency • Present at birth • 21st Chromosome error • Varies from mild to severe • Surgery for heart defect. Help as needed

8. Hemophilia • Sex linked—males • Present at birth • Genetic • Absence of clotting factor • Treated with transfusions and avoid injury

9. Huntington’s disease (Chorea) • Genetic • Shows up in middle age. • Deterioration of body and brain leading to death • No cure

10. Anyone can get it Present at birth or acquired later Many factors cause it Fluid (water) builds up on brain causing brain damage Surgery to put in shunt Hydrocephalus

11. Marfan Syndrome • Genetic—very rare • Present at birth • Heart malformed, hearing loss, long and bony limbs • Treated with heart surgery, medicine, therapy

12. Muscular Dystrophy • X-linked genetic • Present at birth or later in life • Weakening and wasting away of muscles. Sometimes death • No cure

13. Sickle Cell Anemia • Anyone can get it—more common in blacks • Present at birth • Genetic recessive • Abnormal blood cells—misshaped and unable to carry oxygen • Treated with transfusions

14. Tay-Sachs Disease • More common in Jews (ethnicity, not religion) • Diagnosed by six months—dies around age 3 to 5 • Genetic—recessive • Inability to break down fatty deposits in the brain. Nervous system shuts down. • No cure

15. Cerebral Palsy • Brain malformed, injured at birth, or damaged later in life • Not inherited • Ranges from super intelligent to severely retarded • Affects brain’s ability to control muscles • Treat the symptoms

16. Thalassemia • Genetic—recessive • More common in Greeks and Italians • Present at birth • Abnormal red blood cells, not enough red blood cells. • Treated with blood transfusions

17. Toxoplasmosis • The earlier in pregnancy the mother is infected, the lower is the risk of an infection of the fetus, but the severer is the disease. The later in pregnancy the mother is infected, the higher is the possibility of fetal infection, and the disease is less severe •  Parasitic infection from cat fecal matter or undercooked/raw meat • Infected children have seizures, hearing loss, jaundice, blindness, mental retardation • Prevent by cooking meat, not being around cats

18. Spina Bifida • Anyone can get it • Present at birth • Many factors cause it—current research links it to Folic Acid deficiency in mother • Can be slight cyst on spine to open spine—legs are paralyzed, poor bladder control • Treated with surgery and therapy