General info about cri du chat and prader willi syndromes.

1. Cat’s cry syndrome
Prader-Willi syndrome
Mohd Nasiruddin Mansor

2. •Cat’s cry syndrome
(Cri du chat syndrome/5p- syndrome/Lejeune’s syndrome)


A rare genetic disorder due to
a missing part (deletion) of
chromosome 5.
It was first described by
Jérôme Lejeune in 1963

Affects 1 in 50,000 live births, strikes all
ethnicities

More common in females by a 4:3 ratio

3. •Overview
-infants produce a high-pitched cry
-also carries many disabilities and
abnormalities.
-some are born with serious organ
defects or complications that can
result in death
-Most fatal complications occur
before a child’s first birthday.

5. •Can cri-du-chat syndrome be
inherited?
Most
cases of cri-du-chat syndrome are
not inherited
The
deletion occurs most often as a
random event

6. •Symptoms
A high-pitched cry(abnormal larynx
development and CNS )
• Low birth weight
• Feeding problems
• Severe cognitive, speech, and motor
delays
• Behavioral problems
•

7. •Symptoms
Common findings
•
•
•
•
•
•
•
•
•
Small chin
Unusually round face
Small bridge of the nose
Abnormally wide-set eyes (ocular or
orbital hypertelorism)
Hypotonia
Low-set ears
Short fingers
Single palmar creases
Cardiac defects (eg, ventricular
septal defect)

8. •Other symptoms
•
•
•
•
•
•
Severe mental retardation
Dropped-jaw, open-mouth expression
Malocclusion of the teeth
Scoliosis
Chronic medical problems(URTI,OM,constipation…)
Cleft lip and palate

9. • A-8
• B• C-
• D-
months
2 years
4 years
9 years 6
months

10. •Diagnosis
•
•
•
•
at birth, based on physical abnormalities and
displayed symptoms.
X-ray on head to detect abnormalities in the base
of the skull
MRI,CT,EchoCG
To confirm a diagnosis, a chromosome
test often will be performed.

11. •Diagnosis
Fluorescence in situ hybridization (FISH)

12. •Differential diagnosis
•
Patau
syndrome(Trisomy13)
•
Wolf-Hirschhorn
syndrome(partial
deletion of
chromosome 4)

13. •Treatment
•
No cure is available for cri-du-chat syndrome
•
Speech therapy
•
Behavior modification programs
•
Surgical treatment(cleft palate,congenital
heart problems)

14. •Prader-Willi syndrome
P.W
o
o
o
A rare, genetic disorder
Seven genes on chromosome 15 (q
11–13)are deleted or unexpressed on
the paternal chromosome.
first described in 1956 in Swiss
o 1 in 10,000 live
births.

15. •Genetics
Chromosome 15
•
•
An individual without Prader-Willi syndrome
receives a chromosome 15 from the mother and
another from the father.
In Prader-Willi syndrome there are three genetic
subtypes: deletion, maternal disomy and
imprinting defect.

17. •Genetics
1.Deletion(70%)
•
•
•
A deletion including the q12
band
The imprinted q11-q13 is
normally active on the father's
chromosome 15 and inactive
on the chromosome 15
inherited from the mother.
Therefore, the paternally
expressed genes from this
region of chromosome 15 are
missing in the deleted region
of chromosome 15 and
Prader-Willi syndrome occurs.

18. •Genetics
2. Maternal Disomy or UPD (25%)
•
•
both chromosome 15s are
inherited from the mother and
no chromosome 15 is present
from the father.
missing chromosome 15 from
the father which contains the
active genes required for
normal development.

19. •Genetics
3. Imprinting defects
•
•
•
imprinting defect inherited from
the father of the chromosome 15
involving the q11-q13 region.
normal expression of genes that
are active on the chromosome 15
from the father is not allowed
Prader-Willi syndrome then occurs

20. •Signs and Symptoms
Generally occur in 2 stages
1)Infants:
• Poor muscle tone(hypotonia)
• Distinct facial features
• Failure to thrive.(poor feeding)
• Lack of eye coordination
(strabismus)
• Generally poor
responsiveness(tired,slow
response)

22. •
narrow temples,elongated face, thin
upper lip and a prominent nose.

23. •Signs and symptoms
2nd Stage
2)Early childhood
• Food craving and weight gain
• Underdeveloped sex organs
• Poor growth and physical
development.(low muscle mass)
• Learning disabilities.
• Delayed motor development.
• Speech problems.
• Behavioral problems.
• Scoliosis.

24. A -8 month female
hypotonia, hypogonadism, and need for assisted
feeding
B- 19 year old obese male
C- 34 year old male(with controlled diet)

25. •Diagnosis
• Based
on clinical presentation
• Genetic testing

26. •Treatment
• No
cure
• Treatment is to lessen the symptoms.
• Physiotherapy during infancy
• Speech therapy
• Growth hormone therapy
• They have high pain tolerance-may
unaware of acute gastritis,cholecystitis
and appendicitis.