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Cri-du-chat Syndrome By: Maddy Gordon. What is Cri-du-chat syndrome? Cri-du-chat syndrome is a rare chromosomal condition that results when a piece of.

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Presentation on theme: "Cri-du-chat Syndrome By: Maddy Gordon. What is Cri-du-chat syndrome? Cri-du-chat syndrome is a rare chromosomal condition that results when a piece of."— Presentation transcript:

1 Cri-du-chat Syndrome By: Maddy Gordon

2 What is Cri-du-chat syndrome? Cri-du-chat syndrome is a rare chromosomal condition that results when a piece of chromosome 5 is missing. It also known as 5p- syndrome and cat cry syndrome. Although it never goes away, it is unusual for patients to be diagnosed after the age of two or three. the disorder.

3 What are the symptoms? The symptoms of patients vary depending on the size and deletion of the 5p arm, but the most common are ● high-pitched cat-like cry ● mental retardation ● delayed development ● distinctive facial features ● small head size ● widely-spaced eyes ● low birth weight and weak muscle tone in infancy ● respiratory problems

4 How is it inherited? Most cases of cri du chat syndrome are not inherited. The chromosomal deletion usually occurs as a random event during the formation of reproductive cells or in early development. People with cri du chat typically have no history of the condition in their family. However, 10% of people with cri du chat syndrome inherit the chromosome with a deleted segment from an unaffected parent.

5 How does it affect the child? Children born with this genetic condition will not be able to live their lives as independent people. However, it doesn't mean they won't be able to live full and purposeful lives. With speech and physical therapy, children diagnosed will be able to grow and reach their fullest potential.

6 Prevention and diagnoses Doctors most often identify cri-du-chat by the infant's cat-like cry. Other signs are microcephaly, poor muscle tone, and mental retardation. It is also possible to test for cri-du-chat before the baby is born. Testing can be done either on a tiny sample of tissue from outside the sac where the baby develops or on a sample of the amniotic fluid that surrounds the baby. Since Cri-du-chat is a genetic disease, there is no real prevention.

7 Is there a cure? Although there is no real treatment or cure for cri-du-chat syndrome, children with the disorder can go through therapy to improve their language skills, motor skills, and to help them develop.

8 Current status of research There is no way of treating Cri-Du-Chat syndrome currently, but in the future gene therapy is a possibility for curing this genetic disorder and most of the medical problems caused by Cri-Du-Chat syndrome can be corrected through current medical treatments, operations, and therapies.

9 Citations Created by Ivison, Bob. "What is cri-du-chat syndrome?" Cri-du-chat Support Group of Australia Inc. Updated on Dec. 31 2006. http://www.criduchat.asn.au/index.htm John Hopkins University. "Description." "Population Genetics." Online Mendelian Inheritance in Man. Updated on May 1, 2007. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123450 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=123450 U.S. National Library of Medicine. "Cri-du-chat syndrome." Genetics Home Reference. Updated on Jan. 2007. http://www.ghr.nlm.nih.gov/condition=criduchatsyndrome http://www.ghr.nlm.nih.gov/condition=criduchatsyndrome Cri-du-chat organization. “International Criduchat” Updated on May 6, 2008 http://criduchat.org


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