Transcript Jacobsen Disease

Jacobsen Syndrome
Ashley Osborne
Quesha McClanahan
Orchi Haghighi
• is a rare congenital disorder resulting
from deletion of a terminal region of
chromosome 11 that includes band
11q24.1.
• It can cause intellectual disabilities, a
distinctive facial appearance, and a
variety of physical problems including
heart defects and a bleeding disorder.
Young girl with Jacobsen
Syndrome from Clermont,
Florida.
• Other common medical
complications include recurrent
infections, decreased platelet
count
• The syndrome derives its name
from a Danish physician, Dr.
Petra Jacobsen, who first
described an affected child in
1973.
• One copy of chromosome 11 is
missing so an affected person
has one out of a possible two
copies of the genes in that
region.
• It is the loss of these genes that
leads to the multiple problems
found in Jacobsen syndrome.
Symptoms
• Individuals with Jacobsen
syndrome have a
distinctive physical
appearance. The face is
characterized by widespaced eyes
(hypertelorism), droopy
eyelids (ptosis),
redundant skin covering
the inner eye (epicanthal Hypertelorism- upper left & Ptosis- upper right
Epicathal Folds- bottom left & Micrognathia- bottom right
folds), a broad or flat
nasal bridge, a short nose
with upturned nostrils, a
small chin
(micrognathia), low-set
ears, and a thin upper lip.
• Children with Jacobsen syndrome usually
have some degree of mental retardation,
ranging from mild to severe.
• Nearly all affected individuals also have
decreased muscle tone (hypotonia)
or increased muscle
tone (hypertonia)
as well as motor
delays. Occasionally,
brain abnormalities
are present.
• Multiple types of physical abnormalities are known to occur in individuals
with Jacobsen syndrome.
• Congenital heart disease is present in about half of
affected children
• Other common internal abnormalities include
pyloric stenosis, undescended testes, inguinal
hernia, kidney defects, urinary tract abnormalities,
craniofacial abnormalities, and external ear
anomalies are frequent.
Craniofacial Abnormalities
• There are a variety of other
health problems found in
individuals with Jacobsen
syndrome. Illnesses including
recurrent respiratory
infections
• Also gastrointestinal problems
such as gastroesophageal
reflux and chronic constipation
may occur.
Causes
• It is caused by the loss
of a small portion of a
chromosome at
conception.
• In Jacobsen syndrome
a small piece of the 11th
chromosome is missing
(or deleted) and this
causes a range of
clinical features in
individuals with this
condition.
• The features are related to the genes that
are absent from the small piece of
chromosome 11 that
is missing.
• The reason for the loss
of the piece of
chromosome is not
fully understood.
• Jacobsen syndrome
occurs more frequently
in females than males.
Diagnosis
• Most individuals with Jacobsen
syndrome are diagnosed after
birth. The diagnosis is usually
made through a blood test
called chromosome analysis in
an infant or child who has
mental retardation and a
typical facial appearance.
• The karyotype will show a
deletion or rearrangement of
the longer segment, known as
the q arm, of one copy of
chromosome 11.
• Jacobsen Syndrome
can be diagnosed
before birth.
There have been
reports of prenatal
diagnosis through
amniocentesis after
an ultrasound demonstrated one or more fetal abnormalities.
• Another technique, known as FISH (fluorescent in-situ hybridization),
may be used to further define the chromosome 11q deletion breakpoints
Treatment
• Varies depending on the severity that may
develop
• Services and Programs
-Physical and Speech
Therapy
-Social, Vocational and
Medical services
-Educational Support
• Surgery
• Genetic counseling
Impact
• Family is emotionally disturbed
• Many join a support group
• Impacts learning disabilities and your ability to
take care of yourself
• Mobility
Bibliography
• http://www.healthline.com/galecontent/jacob
sen-syndrome-1/2
• http://www.wrongdiagnosis.com/j/jacobsen_s
yndrome/intro.htm
• http://www.cafamily.org.uk/medicalinformati
on/conditions/azlistings/j10_3.html
• http://www.wikigenes.org/e/gene/e/3719.ht
ml