JACOBSEN

SYNDROME
GROUP 1
Mutation in simple terms is defined as sudden and
abrupt changes to the genetic material of
organisms. Spontaneous changes that affect the
DNA, or the genes or sometimes the complete
chromosome.

It was 1973 when Dr. Petrea Jacobsen, a geneticist

from Denmark reported on a family about the
Jacobsen Syndrome.
a rare disease; condition characterized by the
deletion of several genes on chromosome 11. A
chromosome disorder, which means it is caused by
changes in the way information is arranged into
chromosomes.

This deletion in the 11th chromosome causes

intellectual disabilities, handicaps, and heart
defects but signs and symptoms vary among
affected people.
Symptoms of this disease may start to appear
during Pregnancy.
During genetic testing, magnified chromosomes
are evaluated under a microscope.
They’re stained to give them a “barcode”
appearance.
The broken chromosome and the genes that have
been deleted will be visible.
Symptoms include
Paris-Trousseau syndrome
-a congenital platelet disorder encountered in
most patients with Jacobsen syndrome.

-Distinctive facial features.

-Delayed development of motor skills.
-Speech cognitive impairment.
Other features may include:
-Compulsive behavior.
-Attention deficit-hyperactivity disorder
(ADHD).
-Congenital heart defects.
-Short stature and/or skeletal abnormalities.
Many people with Jacobsen syndrome will be
shorter than average at their adult height.
They may also have
macrocephaly, or a
larger-than-average
head size.
Trigonocephaly is
another common
symptom. This gives
the forehead a pointed
look.
Other physical symptoms include
distinctive facial features:
• wide-set eyes with droopy eyelids.
• small and low-set ears.
• a broad nasal bridge.
• downturned corners of the mouth.
• a small lower jaw.
• a thin upper lip.
• skin folds covering the inner corners of the
eyes.
In most cases, the deletion that causes
Jacobsen syndrome is not inherited and
occurs randomly due to an error in cell
division. In some cases, an affected
person inherits the deletion from an
unaffected parent with a balanced
translocation.
There is no cure for Jacobsen syndrome,
so treatment will focus on improving the
child’s overall health. Some available
therapies can be done to help improve
some of the symptoms but treatment will
focus on addressing health complications
that arise and helping the child reach
developmental milestones.