PATAU SYNDROME
Description: Patau syndrome is a syndrome caused by a
chromosomal abnormality, in which some or all of the cells of the
body contain extra genetic material from chromosome 13. The
extra genetic material disrupts normal development, causing
multiple and complex organ defects.
Symptoms: Of those fetuses that do survive to gestation and
subsequent birth, common abnormalities may include:
Nervous
system:
Intellectual disability and motor disorder, Microcephaly,
Holoprosencephaly (failure of the forebrain to divide properly),
Structural eye defects, including microphthalmia, Peters'
anomaly, cataract, iris or fundus (coloboma), retinal dysplasia or
retinal detachment, sensory nystagmus, cortical visual loss, and
optic nerve hypoplasia, Meningomyelocele (a spinal defect)
Urogenital:
Abnormal genitalia, Kidney defects
Other:
Heart defects (ventricular septal defect) (Patent Ductus Arteriosus), Dextrocardia, Single umbilical artery
Appearance:
Musculoskeletal and cutaneous: Polydactyly (extra digits), Cyclopia, Proboscis, Congenital trigger digits,
Low-set ears, Prominent heel, Deformed feet known as rocker-bottom feet, Omphalocele (abdominal
defect), Abnormal palm pattern, Overlapping of fingers over thumb, Cutis aplasia (missing portion of the
skin/hair), Cleft palate
FRAGILE X
Description: Fragile X syndrome is a genetic condition
that causes a range of developmental problems including
learning disabilities and cognitive impairment. Inherited
in an X-linked dominant pattern. It is typically due to an
expansion of the CGG triplet repeat within the Fragile X
mental retardation 1 (FMR1) gene on the X chromosome.
This results in not enough of the fragile X mental
retardation protein (FMRP), which is required for the
normal development of connections between neurons.
Diagnosis requires genetic testing to determine the
number of CGG repeats in the FMR1 gene. Normal is
between 5 and 40 repeats, fragile X syndrome occurs
with more than 200.
Symptoms:
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Intellectual disabilities, ranging from mild to severe.
Attention deficit and hyperactivity, especially in young children.
Anxiety and unstable mood.
Autistic behaviors, such as hand-flapping and not making eye contact.
Sensory integration problems, such as hypersensitivity to loud noises or bright lights.
Appearance:
Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles.
TAY-SACHS
Description: Tay–Sachs disease is a genetic
disorder that results in the destruction of
nerve cells in the brain and spinal cord.[1] The
most common type, known as infantile Tay–
Sachs disease, becomes apparent around
three to six months of age with the baby losing
the ability to turn over, sit, or crawl.
Symptoms: Tay–Sachs disease is typically first
noticed in infants around 6 months old
displaying an abnormally strong response to
sudden noises or other stimuli, known as the
"startle response". There may also be
listlessness or muscle stiffness (hypertonia).
The disease is classified into several forms, which are differentiated based on the onset age of neurological
symptoms.
Appearance: Tay-Sachs disease is a rare, inherited disease. It is a
type of lipid metabolism disorder. It causes too much of a fatty
substance to build up in the brain. This buildup destroys nerve cells,
causing mental and physical problems. Infants with Tay-Sachs
disease appear to develop normally for the first few months of life.
Then mental and physical abilities decline. The child becomes blind,
deaf, and unable to swallow. Muscles begin to waste away and
paralysis sets in. Even with the best of care, children with Tay-Sachs
disease usually die by age 4.
MARPHAN SYNDROME (MARFAN)
Description: Marfan syndrome is a genetic disorder that affects the
body’s connective tissue. Connective tissue holds all the body’s cells,
organs and tissue together. It also plays an important role in helping
the body grow and develop properly.
Symptoms: Tall and slender build, Disproportionately long arms, legs
and fingers. A breastbone that protrudes outward or dips inward. A
high, arched palate and crowded teeth. Heart murmurs. Extreme nearsightedness. An abnormally curved
spine. Flat feet.
Appearance: People with Marfan tend to be tall and thin, with long arms, legs, fingers and toes. They also
typically have flexible joints and scoliosis. The most serious complications involve the heart and aorta,
with an increased risk of mitral valve prolapse and aortic aneurysm. Other commonly affected areas
include the lungs, eyes, bones and the covering of the spinal cord
XYY MALE SYNDROME (KLINEFELTER SYNDROME)
Description: Klinefelter syndrome is a
chromosomal condition in boys and men
that can affect physical and intellectual
development. Most commonly, affected
individuals are taller than average are unable
to father biological children (infertile);
however the signs and symptoms of
Klinefelter syndrome vary among boys and
men with this condition.
Symptoms:
 Taller than average stature.
 Longer legs, shorter torso and broader
hips compared with other boys.
 Absent, delayed or incomplete puberty.
 After puberty, less muscle and less facial
and body hair compared with other teens.
 Small, firm testicles.
 Small penis.
 Enlarged breast tissue (gynecomastia)
Appearance: The primary features are
infertility and small poorly functioning
testicles. Prominent features may include
weaker muscles, greater height, poor
coordination, less body hair, breast growth,
and less interest in sex.
MA. LOUIESA T. BILARAN