Genetic disorders result from changes or mutations in an individual's DNA. They can be caused by changes in the number or structure of chromosomes. Some examples of genetic disorders described in the document are cystic fibrosis, phenylketonuria, Down syndrome, Tay-Sachs disease, sickle cell anemia, hemophilia, albinism, dwarfism, progeria, osteogenesis imperfecta, cleft lip and palate, and clubfoot. Each has distinct characteristics in terms of inheritance, prevalence, symptoms, and effects. Genetic disorders demonstrate how disruptions to the DNA code can profoundly impact health.

1. Genetic Disorders

2. Genetic Disorders:
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A genetic disorder results from an inherited
disruption in an organism’s DNA
Can be a change in the number of
chromosomes and deletion or duplication of
entire chromosome or part of chromosome
Disorders can be linked to a change in a
single specific gene

3. Cystic Fibrosis (CF)
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Recessive disorder
1 in 2500 births
5% of pop. are carriers

4. Phenylketonuria (PKU)
Recessive disorder
 1 in 10,000 births
 Inheritance of genetic
mutation
 Leads to mental
retardation
and epilepsy if not
treated
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5. Down Syndrome
Faulty gamete cell division
 Small % inherit
chromosomal
defect from mother or
father
 Excess of chromosome 21
 Cause mental retardation,
hearing loss, heart defects
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6. Tay Sachs Disease
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2 Tay sach carriers
have 1 in 4 chance of
passing on disease
Fatal inherited
disease
Affects buildup of
fatty substances in
brain and nerve cells

7. Sickle Cell Anemia
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Heredity disease
1 in 12 African
Americans carry sickle
cell traits
Red blood cells
become rigid and
curved
Can cause anemia

8. Hemophilia
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Bleeding and clotting
disorder
Sex-linked disorder –
about 1 in 4,000 males
are born with disorder
each year
Have mutation in
Factor VIII gene

9. Albinism
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Little or no pigment in
their eyes, skin, and
hair
Affects about 1 in
17,000 births each
year
Can occur in humans
and animals

10. Dwarfism
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Usually refers to primary
bone disorder—bones do
not grow and develop
properly
Affects 1 in 40,000
children born each year
Commonly causes short
limbs and bowed legs

11. Progeria
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Rare, fatal genetic
disorder
Name comes from greek
meaning “prematurely old”
Mutation in gene called
LMNA
Children usually die of
heart disease by age 8-13
100 cases since 1886

12. Osteogenesis Imperfecta
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Literally means “bone that
is imperfectly made from
the beginning of life”
Also called “brittle bone
disease”
Most cases caused by
dominant genetic defect or
spontaneous mutation
1 in 20,000 births

13. Cleft Lip & Palate
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1 in 700 children will
be born with a cleftrelated birth defect
Most are boys
If a person has a cleft
defect, there is a 50%
possibility of passing
gene to an offspring

14. Clubfoot
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One or both feet can
be affected
Affects 1 out of every
100 births
Risk factors: family
history of disorder and
being male