CRI DU CHAT

SYNDROME
A chromosomal condition in which a piece of
chromosome 5 is missing.
 OUTLINE
Discovery

Cause

Inheritance

Symptoms

Other Complications

Frequency

Diagnosis
Treatment

Life with Cri du Chat

Outlook
Summary

References
W H O D I S C O V E R E D C R I D U C H AT ?

Jerome Lejeune

Identified Cri du Chat in 1963

 W H AT C A U S E S C R I D U C H AT
SYNDROME?

Chromosomal deletion

Complications in gamete formation

https://
ghr.nlm.nih.gov/condition/
cri-du-chat-syndrome#defin
ition
 INHERITANCE
Usually not an inherited disease

Formation of reproductive cells

 SIGNS AND
SYMPTOMS
A high-pitched / cat-like cry

Mental retardation

Delayed development

Distinct facial features

Small head size

Low birth weight http://

switchthegene.yola
site.com/applicati
ons.php
 W H AT E L S E D O E S I S A F F E C T ?

Can cause:
Skeletal problems
Heart defects
Poor muscle tone
Other difficulties
 F R E Q U E N C Y O F C R I D U C H AT

1 in 25,000 to 50,000 newborns

More frequent in females

Not all cases are diagnosed

 DIAGNOSIS
Usually identified not long after birth

Chromosomal studies

Can be identified with chromosomal testing

FISH testing

http://
www.biology.iupui.e
du/biocourses/N100/
2k2humancsomaldisor
ders.html
TREATMENT OPTIONS
Currently no cure

No prevention methods

Therapy

Genetic counseling
 LIFE WITH CRI DU
CHAT
Some can be born with severe defects

Impacts the individual and others

 FUTURE OUTLOOK
Research

Normal life expectancy

 SUMMARY
Jerome Lejeune

Cause

Distinct symptoms

Treatment options

Life with the disease

 L I T E R AT U R E R E F E R E N C E S

http://fivepminus.org/about.htm

https://medlineplus.gov/ency/article/001593.htm

www.clinicaltrials.gov
 RESOURCES
Cri-du-chat syndrome. (2017, February 14). Retrieved February 19, 2017, from
https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome#statistics

Kivi, R. (2015, December 21). Crying Cat Syndrome (Cri-du-Chat) (S. Kim MD, Ed.).
Retrieved February 19, 2017, from
http://www.healthline.com/health/cri-du-chat-syndrome#Overview1

Learning About Cri du Chat Syndrome. (2013, April 18). Retrieved February 18,
2017, from https://www.genome.gov/19517558/learning-about-cri-du-chat /

Mainardi, P. C. (2006). Cri du Chat syndrome. Orphanet Journal of Rare Diseases. 1-9.
10.1186/1750-1172-1-33

Mezoff, A., MD , & Pentiuk, S., MD. (2016). Cri du Chat Syndrome. Retrieved
February 19, 2017, from https://rarediseases.org/rare-diseases/cri-du-chat-syndrome/

Cri Du Chat Syndrome: Causes, Symptoms & Treatment. (2010, February 21).
Retrieved February 18, 2017, from https://
www.disabled-world.com/disability/types/cri-du-chat.php
 QUESTIONS?
Questions or comments?