Genetic Disorders

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
• Genetic
• Shows up in middle
age.
• Deterioration of body
and brain leading to
death
• No cure
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—recessive
• More common in
Greeks and Italians
• Present at birth
• Abnormal 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 meat
• Infected children have seizures,
hearing loss, jaundice, blindness,
mental retardation
• Prevent by cooking meat, not
being around cats
 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