Download Symptoms of Patau`s Syndrome

HUMAN DISORDER’S
What is Down syndrome?
Down syndrome is a chromosomal condition related to chromosome 21. It affects 1 in
800 to 1 in 1000 live born infants.
symptoms of Down syndrome?
People who have Down syndrome have learning difficulties, mental retardation, a
characteristic facial appearance, and poor muscle tone (hypotonia) in infancy.
Individuals with Down syndrome also have an increased risk for having heart defects,
digestive problems such as gastroesophageal reflux or celiac disease, and hearing loss. Some
people who have Down syndrome have low activity of the thyroid gland (hypothyroidism) - an
organ in the lower neck that produces hormones.
How is Down syndrome diagnosed?
Down syndrome can be diagnosed in infancy based on the characteristic clinical findings.
When Down syndrome is suspected in a person, a genetic test called a chromosome analysis is
performed on a blood or skin sample to look for an extra chromosome 21 (trisomy 21).
Trisomy 21 means that each cell in the body has three copies of chromosome 21 instead of
the usual two copies.
Having an extra number 21 chromosome interrupts the normal course of development,
causing the characteristic clinical features of Down syndrome. Some people who have Down
syndrome have an extra number 21 chromosome in only some of their body's cells. This type
of Down syndrome is called mosaic Down syndrome.
What is the treatment for Down syndrome?
Treatment for Down syndrome is based on the person's physical problems and intellectual
challenges. Many babies who have Down syndrome do not have good muscle tone, which
makes it harder for them to roll over and walk. Physical therapy can help with these problems.
About 40 - 60 percent of babies born with Down syndrome have a heart defect. Therefore, all
newborns with Down syndrome have their heart checked with an electrocardiogram and an
echocardiogram. When there is a heart defect present in an infant with Down syndrome, the
infant is referred to a pediatric cardiologist for medical management or to a pediatric cardiac
surgeon for early surgical repair.
Some infants with Down syndrome have difficulties with swallowing or they may have
blockages in their bowels. Surgery can be performed to correct these problems. Once
corrected, they usually cause no further health issues.
Children with Down syndrome may have frequent colds and sinus and ear infections. These
are treated early and aggressively to prevent hearing loss and chronic infections.
Low thyroid levels are more common in infants who have Down syndrome. It is recommended
that thyroid level testing be performed at least yearly.
Some infants with Down syndrome have eye problems such as cataracts (cloudy lenses) or
crossed eyes (strabismus). Surgery can help with these problems.
Sucking problems related to low muscle tone or heart problems may make breast feeding
difficult initially. Occupational therapists, speech therapists, breast feeding consultants and
support groups usually have specific resources for the mothers of infants with Down
syndrome.
Intelligence in individuals with Down syndrome ranges from low normal to very slow to learn.
At birth it is not possible to tell the level of intelligence a baby with Down syndrome will have.
All areas of development including motor skills, language, intellectual abilities, and social and
adaptive skills are followed closely in children with Down syndrome. Early referral, beginning
at birth, to an early intervention program will help enhance development. Preschool programs
for children with Down syndrome include physical, occupational, speech and educational
therapies.
Turner syndrome
Turner syndrome is a chromosomal condition that alters development in females. Women with
this condition tend to be shorter than average and are usually unable to conceive a child
(infertile) because of an absence of ovarian function. Other features of this condition that can
vary among women who have Turner syndrome include: extra skin on the neck (webbed
neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart
defects and kidney problems.
This condition occurs in about 1 in 2,500 female births worldwide, but is much more common
among pregnancies that do not survive to term (miscarriages and stillbirths).
Turner syndrome is a chromosomal condition related to the X chromosome. [ghr.nlm.nih.gov]
Researchers have not yet determined which genes on the X chromosome are responsible for
most signs and symptoms of Turner syndrome. They have, however, identified one gene called
SHOX that is important for bone development and growth. Missing one copy of this gene likely
causes short stature and skeletal abnormalities in women with Turner syndrome.
symptoms of Turner syndrome?
Girls who have Turner syndrome are shorter than average. They often have normal height for
the first three years of life, but then have a slow growth rate. At puberty they do not have the
usual growth spurt.
Non-functioning ovaries are another symptom of Turner syndrome. Normally a girl's ovaries
begin to produce sex hormones (estrogen and progesterone) at puberty. This does not happen
in most girls who have Turner syndrome. They do not start their periods or develop breasts
without hormone treatment at the age of puberty.
Even though many women who have Turner have non-functioning ovaries and are infertile,
their vagina and womb are totally normal.
In early childhood, girls who have Turner syndrome may have frequent middle ear infections.
Recurrent infections can lead to hearing loss in some cases.
Girls with Turner Syndrome are usually of normal intelligence with good verbal skills and
reading skills. Some girls, however, have problems with math, memory skills and fine-finger
movements.
Additional symptoms of Turner syndrome include the following:
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An especially wide neck (webbed neck) and a low or indistinct hairline.
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A broad chest and widely spaced nipples.
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Arms that turn out slightly at the elbow.
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A heart murmur, sometimes associated with narrowing of the aorta (blood vessel
exiting the heart).
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A tendency to develop high blood pressure (so this should be checked regularly).

Minor eye problems that are corrected by glasses.
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Scoliosis (deformity of the spine) occurs in 10 percent of adolescent girls who have
Turner syndrome.
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The thyroid gland becomes under-active in about 10 percent of women who have
Turner syndrome. Regular blood tests are necessary to detect it early and if necessary
treat with thyroid replacement
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Older or over-weight women with Turner syndrome are slightly more at risk of
developing diabetes.
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Osteoporosis can develop because of a lack of estrogen, but this can largely be
prevented by taking hormone replacement therapy.
How is Turner syndrome diagnosed?
A diagnosis of Turner syndrome may be suspected when there are a number of typical
physical features observed such as webbed neck, a broad chest and widely spaced nipples.
Sometimes diagnosis is made at birth because of heart problems, an unusually wide neck or
swelling of the hands and feet.
The two main clinical features of Turner syndrome are short stature and the lack of the
development of the ovaries.
Many girls are diagnosed in early childhood when a slow growth rate and other features are
identified. Diagnosis sometimes takes place later when puberty does not occur.
Turner syndrome may be suspected in pregnancy during an ultrasound test. This can be
confirmed by prenatal testing - chorionic villous sampling or amniocentesis - to obtain cells
from the unborn baby for chromosomal analysis. If a diagnosis is confirmed prenatally, the
baby may be under the care of a specialist pediatrician immediately after birth.
Diagnosis is confirmed by a blood test, called a karyotype. This is used to analyze the
chromosomal composition of the female.
Klinefelter syndrome
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome.
The most common symptom is infertility.
Humans have 46 chromosomes, which contain all of a person's genes and DNA. Two of these
chromosomes, the sex chromosomes, determine a person?s gender. Both of the sex
chromosomes in females are called X chromosomes. (This is written as XX.) Males have an X
and a Y chromosome (written as XY). The two sex chromosomes help a person develop
fertility and the sexual characteristics of their gender.
Most often, Klinefelter syndrome is the result of one extra X (written as XXY). Occasionally,
variations of the XXY chromosome count may occur, the most common being the XY/XXY
mosaic. In this variation, some of the cells in the male's body have an additional X
chromosome, and the rest have the normal XY chromosome count. The percentage of cells
containing the extra chromosome varies from case to case. In some instances, XY/XXY
mosaics may have enough normally functioning cells in the testes to allow them to father
children.
Klinefelter syndrome is found in about 1 out of every 500-1,000 newborn males. The
additional sex chromosome results from a random error during the formation of the egg or
sperm. About half of the time the error occurs in the formation of sperm, while the remainder
are due to errors in egg development. Women who have pregnancies after age 35 have a
slightly increased chance of having a boy with this syndrome.
symptoms of Klinefelter syndrome
Males who have Klinefelter syndrome may have the following symptoms: small, firm testes, a
small penis, sparse pubic, armpit and facial hair, enlarged breasts (called gynecomastia), tall
stature, and abnormal body proportions (long legs, short trunk).
School-age children may be diagnosed if they are referred to a doctor to evaluate learning
disabilities. The diagnosis may also be considered in the adolescent male when puberty is not
progressing as expected. Adult males may come to the doctor because of infertility.
Klinefelter syndrome is associated with an increased risk for breast cancer, a rare tumor called
extragonadal germ cell tumor, lung disease, varicose veins and osteoporosis. Men who have
Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus,
rheumatoid arthritis and Sjogren's syndrome.
Super Female
This is an example of a sex chromosome abnormality.
This condition has a genotype 47, XXX.
The chromosomal abnormality 47,XXX occurs in one in a thousand female births; its incidence
increases with increasing maternal age.
Non-disjunction at either female meiotic division or at the male second meiotic division is the
cause of 47,XXX.
The clinical features associated with 47,XXX are extremely variable. Some possible features
associated with 47,XXX are:
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often no distinguishing phenotype, especially in 1st year of life
there may be slight neuromotor developmental delay, followed by slight delay in speech
and language. Lack of co-ordination and poor academic performance with immature
behaviour
affected individuals tend to be tall
normal sexual development
there is an increased incidence of infertility in females affected by this condition
considerable variability in syndrome makes counselling problematic: spectrum from
learning disabilities to graduates
Patau's syndrome
Patau's syndrome is most often the result of trisomy 13, meaning each cell in the body
has three copies of chromosome 13 instead of the usual two. A small percentage of cases
occur when only some of the body's cells have an extra copy; such cases are called
mosaic Patau.
Patau syndrome can also occur when part of chromosome 13 becomes attached to another
chromosome (translocated) before or at conception in a Robertsonian translocation.
Affected people have two copies of chromosome 13, plus extra material from
chromosome 13 attached to another chromosome. With a translocation, the person has a
partial trisomy for chromosome 13 and often the physical signs of the syndrome differ
from the typical Patau syndrome.
Most cases of Patau syndrome are not inherited, but occur as random events during the
formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes.
For example, an egg or sperm cell may gain an extra copy of the chromosome. If one of
these atypical reproductive cells contributes to the genetic makeup of a child, the child
will have an extra chromosome 13 in each of the body's cells. Mosaic Patau syndrome is
also not inherited. It occurs as a random error during cell division early in fetal
development.
Patau syndrome due to a translocation can be inherited. An unaffected person can carry a
rearrangement of genetic material between chromosome 13 and another chromosome.
This rearrangement is called a balanced translocation because there is no extra material
from chromosome 13. Although they do not have signs of Patau syndrome, people who
carry this type of balanced translocation are at an increased risk of having children with
the condition.
Symptoms of Patau’s Syndrome
Of those fetuses that do survive to gestation and subsequent birth, common abnormalities
may include:

Nervous system
o Mental retardation and motor disorder
o Microcephaly
o Holoprosencephaly (failure of the forebrain to divide properly).
o Structural eye defects, including microphthalmia, Peters anomaly (a type
of eye abnormality), cataract, iris and/or fundus (coloboma), retinal
dysplasia or retinal detachment, sensory nystagmus, cortical visual loss,
and optic nerve hypoplasia
o Meningomyelocele (a spinal defect)

Musculoskeletal and cutaneous
o Polydactyly (extra digits)
o Low-set ears[3]
o Prominent heel
o Deformed feet known as rocker-bottom feet
o Omphalocele (abdominal defect)
o Abnormal palm pattern
o Overlapping of fingers over thumb
o Cutis aplasia (missing portion of the skin/hair)
o Cleft palate

Urogenital
o Abnormal genitalia
o Kidney defects
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Other
o
o
Heart defects (ventricular septal defect)
Single umbilical artery[4]
Diagnosis
Diagnosis is usually based on clinical findings, although fetal chromosome testing will
show trisomy 13. While many of the physical findings are similar to Edward's syndrome
there are a few unique traits, such as polydactyly. However, unlike Edward's syndrome
and Down syndrome, the quad screen does not provide a reliable means of screening for
this disorder. This is due to the variability of the results seen in fetuses with Patau.[5]
Treatment
Medical management of children with Trisomy 13 is planned on a case-by-case basis and
depends on the individual circumstances of the patient. Treatment of Patau syndrome
focuses on the particular physical problems with which each child is born. Many infants
have difficulty surviving the first few days or weeks due to severe neurological problems
or complex heart defects. Surgery may be necessary to repair heart defects or cleft lip and
cleft palate. Physical, occupational, and speech therapy will help individuals with Patau
syndrome reach their full developmental potential. Surviving children are described as
happy and parents report that they enrich their lives.[9]
Edwards syndrome
Edwards syndrome (also known as Trisomy 18 [T18]) is a genetic disorder caused by
the presence of all or part of an extra 18th chromosome. This genetic condition almost
always results from nondisjunction during meiosis. It is named after John Hilton
Edwards, who first described the syndrome in 1960.[1] It is the second most common
autosomal trisomy, after Down syndrome, that carries to term.
Edwards syndrome occurs in around one in 6,000 live births and around 80 percent of
those affected are female.[2] The majority of fetuses with the syndrome die before birth.[2]
The incidence increases as the mother's age increases. The syndrome has a very low rate
of survival, resulting from heart abnormalities, kidney malformations, and other internal
organ disorders
Signs and symptoms
Children born with Edwards syndrome may have some or all of the following
characteristics: kidney malformations, structural heart defects at birth (i.e., ventricular
septal defect, atrial septal defect, patent ductus arteriosus), intestines protruding outside
the body (omphalocele), esophageal atresia, mental retardation, developmental delays,
growth deficiency, feeding difficulties, breathing difficulties, and arthrogryposis (a
muscle disorder that causes multiple joint contractures at birth).[3][4]
Some physical malformations associated with Edwards syndrome include small head
(microcephaly) accompanied by a prominent back portion of the head (occiput); low-set,
malformed ears; abnormally small jaw (micrognathia); cleft lip/cleft palate; upturned
nose; narrow eyelid folds (palpebral fissures); widely spaced eyes (ocular hypertelorism);
drooping of the upper eyelids (ptosis); a short breast bone; clenched hands; choroid
plexus cysts; underdeveloped thumbs and or nails, absent radius, webbing of the second
and third toes; clubfoot or Rocker bottom feet; and in males, undescended testicles.[3][4]
In utero, the most common characteristic is cardiac anomalies, followed by central
nervous system anomalies such as head shape abnormalities. The most common
intracranial anomaly is the presence of choroid plexus cysts, which are pockets of fluid
on the brain. These are not problematic in themselves, but their presence may be a marker
for trisomy 18.[5][6] Sometimes excess amniotic fluid or polyhydramnios is exhibited.[3]
Edwards syndrome occurs in approximately 1 in 6,000 live births, but more
conceptions are affected by the syndrome because the majority of those diagnosed
with the condition prenatally will not survive the prenatal period.[2][15] Although
women in their 20s and early 30s may conceive babies with Edwards syndrome, the
risk of conceiving a child with Edwards syndrome increases with a woman's age.
The average maternal age for conceiving a child with this disorder is 32½.[16]