Cri du chat syndrome is a rare genetic disorder due

to chromosome deletion at the end of the short arm (p) of

chromosome 5. It is also known as 5p–Syndrome. Its name is
a French term, meaning “cat-cry” or “call of the cat”,
referring to the cat-like cry of the affected children.
Infants with this condition often have a high-pitched
cry that sounds like that of a cat due to problems with the
larynx and nervous system. The disorder is characterized by
intellectual disability and delayed development, small head
size (microcephaly), low birth weight, and weak muscle tone
(hypotonia).
Small percentage of children with this Cri du chat
syndrome are born with serious organ defects (especially
heart or kidney defects) or other life-threatening
complications that can result in death.
Affected individuals also have distinctive features,
including widely-spaced eyes (hypertelorism), low-set ears, a
small jaw, and a round face.

Progeria is also known as Hutchinson-Gilford

progeria syndrome (HGPS), is a rare genetic
condition that causes a child's body to age fast. Most
kids with progeria do not live past age 13 to 14;
usually from heart attack or stroke.
It is caused by mutations in the LMNA gene,
that is located on the long (q) arm of chromosome
1at position 22.
A single mistake in a certain gene causes it to
make an abnormal protein. When cells use this
protein, called progerin, they break down more
easily. Progerin builds up in many cells of kids with
progeria, causing them to grow old quickly.
Progeria is not inherited, or passed down in
Down syndrome (DS or DNS), also known as trisomy 21, is
families. a genetic disorder caused by the presence of all or part of a third
copy of chromosome 21. 
Down syndrome is one of the most common chromosome
abnormalities in humans. It occurs in about one per 1,000 babies
born each year.
It is usually associated with physical growth delays, mild to
moderate intellectual disability, and characteristic facial
features. The average IQ of a young adult with Down syndrome is
50, equivalent to the mental ability of an 8- or 9-year-old child, but
this can vary widely.
There is no cure for Down syndrome. Education and proper
care have been shown to improve quality of life. Some children with
Down syndrome are educated in typical school classes, while others
require more specialized education. Some individuals with Down
syndrome graduate from high school, and a few attend post-
secondary education. Life expectancy is around 50 to 60 years in
the developed world with proper health care.
 Trisomy 13, also called Patau syndrome, is a chromosomal
condition associated with severe intellectual disability and physical
abnormalities in many parts of the body. Most cases of trisomy 13
result from having three copies of chromosome 13 in each cell in the
body instead of the usual two copies. The extra genetic material
disrupts the normal course of development, causing the
characteristic features of trisomy 13.
Trisomy 13, also called Patau syndrome, is a chromosomal
condition associated with severe intellectual disability and physical
abnormalities in many parts of the body. Individuals with trisomy 13
often have heart defects, brain or spinal cord abnormalities, very
small or poorly developed eyes (microphthalmia), extra fingers or
toes, an opening in the lip (a cleft lip) with or without an opening in
the roof of the mouth (a cleft palate), and weak muscle tone
(hypotonia). Due to the presence of several life-threatening medical
problems, many infants with trisomy 13 die within their first days or
weeks of life. Only five percent to 10 percent of children with this

Trisomy 18, also called Edward’s syndrome, is a

chromosomal condition associated with abnormalities in many
parts of the body. Most cases of trisomy 18 result from having
three copies of chromosome 18 in each cell in the body instead of
the usual two copies. The extra genetic material disrupts the
normal course of development, causing the characteristic features
of trisomy 18.
Individuals with trisomy 18 often have slow growth before
birth (intrauterine growth retardation) and a low birth weight.
Affected individuals may have heart defects and abnormalities of
other organs that develop before birth. Other features of trisomy
18 include a small, abnormally shaped head; a small jaw and
mouth; and clenched fists with overlapping fingers. Due to the
presence of several life-threatening medical problems, many
individuals with trisomy 18 die before birth or within their first
month. Five to 10 percent of children with this condition live past
their first year, and these children often have severe intellectual
part 2

Jacobsen syndrome, or also known as 11q

terminal deletion disorder, is a condition caused by
a loss of genetic material from chromosome 11.
Because this deletion occurs at the end (terminus) of
the long (q) arm of chromosome 11.
Jacobsen syndrome is characterized by
distinctive facial features. These include small and
low-set ears, widely set eyes (hypertelorism) with
droopy eyelids (ptosis), skin folds covering the inner
corner of the eyes (epicanthal folds), a broad nasal
bridge, downturned corners of the mouth, a thin
upper lip, and a small lower jaw. Affected individuals
often have a large head size (macrocephaly) and a
skull abnormality called trigonocephaly, which gives
the forehead a pointed appearance.