here is the presentation of WERNER'S SYNDROME.

1. WERNER'S
SYNDROME
BY- DHARMIK MENDPARA
MD-7A1

2. WHAT IS WERNER SYNDROME?
žWerner syndrome is characterized by the dramatic, rapid appearance of
features associated with normal aging.
žThe characteristic aged appearance of individuals with Werner
syndrome typically begins to develop when they are in their twenties
and includes raying and loss of hair.
žThey may also have a facial appearance described as bird like.
žMany people with Werner syndrome have thin arms and legs and a
thick due to a abnormal fat deposition.
žPeople with Werner syndrome usually live into their late forties or early
fifties. The most common causes of death are cancer and
artherosclerosis.

3. HOW IS WERNER'S SYNDROME INHERITED
● Werner syndrome is inherited in an autosomal
recessive pattern, which means both copies of the
WRN gene in each cell have mutations.
● The parents of an individuals with werner
syndrome each carry one copy of mutated gene,
but they typically do not show signs and
symptoms of the condition.
● 1:2:1 Ratio

4. ASSOCIATED DISEASES
● Atherosclerosis
● Osteoporosis
● Diabetes mellitus
● Skin ulcers
● Soft tissue sarcomas
● MFH {malignant fibrous histiocytoma}
● SNP {single nucleotide polymorphisms}

5. SYMPTOMS
❖ Affected individuals may develop disorders of
aging early in life.
❖ Cataracts
❖ Skin ulcers
❖ Type 2 diabetes
❖ Several hardening of arteries
❖ Thinning of bones
❖ Some type of cancer

6. HOW WERNER'S SYNDROME TESTED OR
DIAGNOSED
❏ Diagnosis of werner syndrome is based on
physical examination.
❏ The most unusual thing about this
syndrome is you start to look much older
than you really one.
❏ There are no specific laboratory tests for
werner syndrome.

7. OCCURENCE OF WERNER'S SYNDROME
★ Approximately 1 in or 20000 or 13600
people suffer from it in the USA.
★ 1 per 20000-40000 people suffer from
werner syndrome in japan.
★ Japanese are the most likely to suffer from
this disease.
★ The trait for this disease is also recessive.

8. IS THERE TREATMENT FOR WERNER'S
SYNDROME?
➢ Since diabetes may occur in patience their
blood sugar level should be checked.
➢ Also artery disease may develop and
cholesterol levels should be monitored.
➢ Unfortunately there is no cure or specific
treatment for werner syndrome.

9. PROGNOSIS AND PREVENTION
1. PROGNOSIS
● The life span of individuals with werner
syndrome is reduced. Death occur on an
average on mid 40s, commonly as a result of
malignancy and myocardial infection.
1. PREVENTION
● Prenatal screening are available to the parents
who are consider at high risk of having affected
child.

10. TO- SOFO
TSKVITINIDZE