Giene Aireish G. Cueto.

Genetics

II BSEd major in Science November 29, 2023

Search about the following genetic disorder

Cystic fibrosis- Cystic fibrosis (CF) is an inherited disorder that causes severe damage
to the lungs, digestive system and other organs in the body. Cystic fibrosis affects the
cells that produce mucus, sweat and digestive juices. These secreted fluids are
normally thin and slippery. But in people with CF, a defective gene causes the
secretions to become sticky and thick. Instead of acting as lubricants, the secretions
plug up tubes, ducts and passageways, especially in the lungs and pancreas.

Down Syndrome- Down syndrome is a genetic disorder caused when abnormal cell
division results in an extra full or partial copy of chromosome 21. This extra genetic
material causes the developmental changes and physical features of Down syndrome.
Down syndrome varies in severity among individuals, causing lifelong intellectual
disability and developmental delays. It's the most common genetic chromosomal
disorder and cause of learning disabilities in children. It also commonly causes other
medical abnormalities, including heart and gastrointestinal disorders.

Hemophilia- Hemophilia is a rare disorder in which the blood doesn't clot in the typical
way because it doesn't have enough blood-clotting proteins (clotting factors). If you
have hemophilia, you might bleed for a longer time after an injury than you would if your
blood clotted properly. Small cuts usually aren't much of a problem. If you have a severe
form of the condition, the main concern is bleeding inside your body, especially in your
knees, ankles and elbows. Internal bleeding can damage your organs and tissues and
be life-threatening.

Sickle Cell Anemia- Sickle cell anemia is one of a group of inherited disorders known as
sickle cell disease. It affects the shape of red blood cells, which carry oxygen to all parts
of the body. Red blood cells are usually round and flexible, so they move easily through
blood vessels. In sickle cell anemia, some red blood cells are shaped like sickles or
crescent moons. These sickle cells also become rigid and sticky, which can slow or
block blood flow.

Huntington’s Disease- Huntington's disease is a rare, inherited disease that causes the
progressive breakdown (degeneration) of nerve cells in the brain. Huntington's disease
has a wide impact on a person's functional abilities and usually results in movement,
thinking (cognitive) and psychiatric disorders.
Muscular Dystrophy- Muscular dystrophy is a group of diseases that cause progressive
weakness and loss of muscle mass. In muscular dystrophy, abnormal genes
(mutations) interfere with the production of proteins needed to form healthy muscle.

Phenylketonuria- Phenylketonuria also ncalled PKU, is a rare inherited disorder that

causes an amino acid called phenylalanine to build up in the body. PKU is caused by a
change in the phenylalanine hydroxylase (PAH) gene. This gene helps create the
enzyme needed to break down phenylalanine. Without the enzyme necessary to break
down phenylalanine, a dangerous buildup can develop when a person with PKU eats
foods that contain protein or eats aspartame, an artificial sweetener. This can eventually
lead to serious health problems.

Tay-Sachs disease- Tay-Sachs disease is a rare genetic disorder passed from parents to
child. It's caused by the absence of an enzyme that helps break down fatty substances.
These fatty substances, called gangliosides, build up to toxic levels in the brain and
spinal cord and affect the function of the nerve cells.

Fragile X Syndrome- Fragile X syndrome, also known as Martin-Bell syndrome is an

inherited condition that causes developmental delays, intellectual disabilities, learning
and behavioral issues, physical abnormalities, anxiety, attention-deficit/hyperactivity
disorder and/or autism spectrum disorder among other problems. It is the most common
form of inherited intellectual and developmental disability.

Turner Syndrome- Turner syndrome, a condition that affects only females, results when
one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner
syndrome can cause a variety of medical and developmental problems, including short
height, failure of the ovaries to develop and heart defects.

Klinefelter Syndrome- Klinefelter syndrome is a genetic condition that results when a

boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a genetic
condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter
syndrome may adversely affect testicular growth, resulting in smaller than normal
testicles, which can lead to lower production of testosterone. The syndrome may also
cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue.
The effects of Klinefelter syndrome vary, and not everyone has the same signs and
symptoms.

Marfan Syndrome- Marfan syndrome is an inherited disorder that affects connective

tissue — the fibers that support and anchor your organs and other structures in your
body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and
skeleton. People with Marfan syndrome are usually tall and thin with unusually long
arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or
severe. If your aorta — the large blood vessel that carries blood from your heart to the
rest of your body — is affected, the condition can become life-threatening.
 Neurofibromatosis-Neurofibromatosis is a group of genetic disorders that cause tumors
to form on nerve tissue. These tumors can develop anywhere in the nervous system,
including the brain, spinal cord and nerves. There are three types of neurofibromatosis:
neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2) and schwannomatosis. NF1 is
usually diagnosed in childhood, while NF2 and schwannomatosis are usually diagnosed
in early adulthood. The tumors in these disorders are usually noncancerous (benign),
but sometimes can become cancerous (malignant). Symptoms are often mild. However,
complications of neurofibromatosis can include hearing loss, learning impairment, heart
and blood vessel (cardiovascular) problems, loss of vision, and severe pain.

Williams syndrome (WS)- also Williams–Beuren syndrome (WBS), is a genetic disorder that
affects many parts of the body. Facial features frequently include a broad forehead,
underdeveloped chin, short nose, and full cheeks. Mild to moderate intellectual
disability is observed in people with WS, with particular challenges with visual spatial
tasks such as drawing. Verbal skills are relatively unaffected.

Compare the genetic disorders on the following key points.

Genetic Etiology Inheritanc Symptoms Age of Treatment Educational

Disorders e and Clinical Onset and Implication
Pattern Manifestation Management
s

1. Cystic Fibrosis Genetic Autosomal Respiratory Early Symptomatic May require

mutation recessive. and digestive childhood. management, special
(autosomal issues due to respiratory accommodation
recessive, thick mucus. therapies, and s due to health
CFTR gene).
medication. needs.

2. Down Chromosomal N/A Intellectual Present Supportive Tailored

Syndrome abnormality (sporadic). disabilities, from birth. care, early educational
(trisomy 21). distinct intervention plans based on
physical programs. cognitive
features. abilities.

3.Hemophilia Genetic X-linked Prolonged Typically Clotting factor Awareness for

deficiency of recessive. bleeding, joint in early replacement injury
clotting issues. childhood. therapy. prevention.
factors.

4. Sickle Cell Genetic Autosomal Anemia, pain Early Pain May require
Anemia mutation recessive crises, organ childhood management, adjustments
affecting damage. blood during sickle cell
hemoglobin
 (autosomal transfusions. crises.
recessive).

5. Huntington’s Genetic Autosomal Progressive Typically Supportive Cognitive

Disease mutation dominant. motor in care, decline may
(autosomal dysfunction, adulthood symptomatic impact learning
dominant, cognitive . management. abilities.
HTT gene). decline.

6. Muscular Genetic Various Progressive Childhood Supportive Adaptations for

Dystrophy mutations types (X- muscle for some care, physical physical
affecting linked weakness. types. therapy. limitations.
muscle recessive,
proteins. autosomal
dominant/
recessive).

7. Genetic Autosomal Intellectual Present Dietary Dietary

Phenylketonuri metabolic recessive. disabilities if from birth. restrictions to restrictions to
a disorder untreated. manage manage
(phenylalanin phenylalanine phenylalanine
e intake. intake.
metabolism).

8. Tay Sachs Genetic Autosomal Neurode- Early Supportive Focus on

Disease disorder recessive. generation, infancy. care; no cure. supportive
(enzyme motor issues. measures due to
deficiency progressive
affecting lipid nature.
metabolism).

9. Fragile X Genetic X-linked Intellectual Present Behavioral Tailored

Syndrome disorder dominant. disabilities, from birth. interventions, education plans
(mutation in behavioral educational considering
the FMR1 challenges. support. cognitive and
gene). behavioral
aspects.

10. Turner Chromosomal N/A Short stature, Present Hormone May need
Syndrome disorder (sporadic). reproductive from birth. therapy, support for short
(monosomy X issues. fertility stature and
in females). treatments. potential
learning
 difficulties.

11. Klinefelter Chromosomal N/A Infertility, tall Puberty. Hormone May require
Syndrome disorder (sporadic). stature. replacement support for
(extra X therapy. learning
chromosome difficulties and
in males). social
interactions.

12. Marfan Connective Autosomal Cardio- Present Monitoring Adaptations for

Syndrome tissue dominant. vascular from birth. and managing potential skeletal
disorder issues, cardiovascula features.
(autosomal skeletal r issues.
dominant, abnormalities.
FBN1 gene).

13. Genetic Autosomal Tumors, skin Varied, Symptomatic Monitoring for

Neurofibroma- disorder dominant. changes, often management, cognitive and
tosis causing neurological childhood. surgery. physical
tumors on issues. challenges.
nerve tissue.

14. Williams Genetic N/A Cardio- Present Symptomatic Tailored

Syndrome disorder (sporadic). vascular from birth. management. educational
(microdeletion problems, plans
on intellectual considering
chromosome disabilities. intellectual and
7). health aspects.