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Ehlers Danlos
Syndrome
Mary Chipamn

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Genetic Disorders
 Genetic disorders can be caused by abnormalities in
genes or chromosomes. In some cases the disorder
is passed down from the parents, but it can also be
caused by mutations in DNA. If a genetic disorder is
hereditary it means that there is a mutated gene
being passed down through the family. The mutation
is carried in the parents reproduction cell. When the
offspring is being produced the mutation will go into
every cell in their body.

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Ehlers Danlos Syndrome
History
 Itwas first discovered in 400 BC by Hipprocrates. It
gets its name from two European dermatologists,
Edvard Ehlers and Henri-Alexandre Danlos. It is
known to be one of the earliest causes for bruising
and bleeding.

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Ehlers Danlos Syndrome ( EDS)
 Ehlers Danlos Syndrome is a
heterogeneous group of
connective tissue disorders. It is
caused by defect in the  Hypermobility: 1 in 10,00-15,000
Collagen. The Collagen is part
of the connective tissues that  Classical: 1 in 20,000-50,000
makes sure that the tissues do
not deform. Some forms of EDS  Vascular: 1 in 100,000-250,000
are very dangerous and can
lead to sudden death due to  Kyphoscoliosis: 60 cases reported
rupturing vessels and organs.
Although most forms of EDS do  Arthrochalisis: 30 cases reported
not include a short life span.
Every type of EDS has the  Dermatosparaxis: 10 cases reported
same symptoms, but in some
types certain symptoms are
more prominent.

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Hypermobility
 Lose joints, joint dislocation, chronic joint pain and double-
jointedness are most prominent in this type. Stretchy skin can
be found, but it isn’t as severe as in other types.
 It is caused by mutations genes

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Classical
 In this type the skin is highly affected. Elastic –like skin, easy
bruising and scarring are commonly found.
 Caused mainly from defective Collagen

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Vascular
 This is considered to be the most dangerous form of EDS.
Organs and vessels are very weak so they are very likely to
rupture.
 Big eyes, thin nose and lips, translucent skin, small chin,
sunken cheeks.
 80% of people with this type will experience very serious health
issues by the age of 40.

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Kyposcoliosis
 Caused by a deficiency of a certain enzyme
 Very weak muscles, eyes and spine

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Arthrochalisis
 Very lose joints, especially in the hips
 Dislocation of joints often

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Dermatosparaxis
 Extremely saggy skin
 Easily bruised and scared

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Symptoms
Some symptoms of EDS are:
 Difficulty in healing wounds
 Easy scarring and bruising
 Elastic-like skin
 Double-jointedness
 Extremely lose joints
 Flat feet
 Joint pain and dislocation

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Treatment
Treatments Improvement
 In most cases there isn’t much  Joint strengthening can be
that can be done. EDS can not done by working out with
be cured. Physical therapy is weights. Once joints are
often the only way of making it strengthened it will decrease
better. Puberty is usually when the likelihood of joint
it is at its worse. Throughout dislocation. For flat footedness
time it can get better just on its it is recommended to wear
own. Some connective arches in all pairs of shoes. It is
surgeries can be done to also encouraged that the joints
decrease pain. There are very that are double-jointed should
few symptoms of EDS that can not ever be stretched.
be improved.

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Complications
 Since there really is no treatment for EDS, there are no side
effects to treatment. How ever, there are many complications
that can happen by having it.
Some complications include:
 Rupture in organs and major vessels
 Rupture of the eyeball
 Rupture of membranes in pregnancy
 Arthritis
 Joint pain

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Gene Therapy
Gene Therapy Gene Therapy in EDS
 Gene therapy is an  Gene Therapy can be used and
experimental technique used to is actually recommended for
try and correct or prevent EDS.
genetic disorders.
 For carriers of EDS, if thinking
 Gene therapy can be done in about getting pregnant, genetic
three ways. It can replace a counseling is also
mutated gene already present, recommended.
inactivate a mutated gene or
bring a whole new gene in.

15. Bibliography
Pictures:
http://uechi.typepad.com/konayogacom/2007/06/double_jointed.html
http://www.mayoclinic.com/images/image_popup/r7_edselasticskin.jpg
http://www.edmontonfootdoc.com/wp-content/uploads/2012/04/Flatfoot.jpg
Information:
http://www.medicine.wisc.edu/~williams/eds_review_2008.pdf
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http://ghr.nlm.nih.gov/handbook/therapy/genetherapy
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002439/
http://learn.genetics.utah.edu/content/disorders/whataregd/