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