genetic disorders problem pregnancies. cleft lip/pallet anyone can have it. more common in some...
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Genetic Disorders
Problem Pregnancies
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.
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.
Color blindness
Sex Linked--Males
Present at birth
Inability to distinguish certain colors.
No cure—learn to accommodate
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.
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
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
Hemophilia
Sex linked—males
Present at birth
Genetic
Absence of clotting factor
Treated with transfusions and avoid injury
Huntington’s disease (Chorea)
Genetic
Shows up in middle age.
Deterioration of body and brain leading to death
No cure
Hydrocephalus
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
Marfan Syndrome
Genetic—very rare
Present at birth
Heart malformed, hearing loss, long and bony limbs
Treated with heart surgery, medicine, therapy
Muscular Dystrophy
X-linked genetic
Present at birth or later in life
Weakening and wasting away of muscles. Sometimes death
No cure
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
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
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
Thalassemia
Genetic—recessiveMore common in Greeks and ItaliansPresent at birthAbnormal red blood cells, not enough red blood cells.Treated with blood transfusions
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 meatInfected children have seizures, hearing loss, jaundice, blindness, mental retardationPrevent by cooking meat, not being around cats
Spina Bifida
Anyone can get itPresent at birthMany factors cause it—current research links it to Folic Acid deficiency in motherCan be slight cyst on spine to open spine—legs are paralyzed, poor bladder controlTreated with surgery and therapy