Welcome to FRIDAY FACTS! here at the www.knowledgesafari.com blog! Each Friday we aim to shine the light on a new area of special needs in order to learn and raise awareness. This week the spotlight is on Cri-du-chat syndrome.
The information below is provided by: Genetics Home Reference – a service provided by the National Institute of Health: ghr.nlm.nih.gov/condition=criduchatsyndrome . You can also find information at the 5P Minus website - www.fivepminus.org
What is cri-du-chat syndrome?
Cri-du-chat (cat's cry) syndrome, also known as 5p- syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, distinctive facial features, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Some children with cri-du-chat syndrome are also born with a heart defect.
Cri-du-chat (cat's cry) syndrome, also known as 5p- syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, distinctive facial features, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Some children with cri-du-chat syndrome are also born with a heart defect.
How common is cri-du-chat syndrome?
Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds and is slightly more common in females.
What are the genetic changes related to cri-du-chat syndrome?
Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions in people with cri-du-chat syndrome.
The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to identify additional genes in this region and determine how their loss contributes to the characteristic features of cri-du-chat syndrome.
Read more about the CTNND2 gene and chromosome 5.
Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds and is slightly more common in females.
What are the genetic changes related to cri-du-chat syndrome?
Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions in people with cri-du-chat syndrome.
The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to identify additional genes in this region and determine how their loss contributes to the characteristic features of cri-du-chat syndrome.
Read more about the CTNND2 gene and chromosome 5.
Can cri-du-chat syndrome be inherited?
Most cases of cri-du-chat syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.
About 10 percent of people with cri-du-chat syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any medical problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri-du-chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5, which results in birth defects and other health problems characteristic of this disorder.
Most cases of cri-du-chat syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.
About 10 percent of people with cri-du-chat syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any medical problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri-du-chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5, which results in birth defects and other health problems characteristic of this disorder.
These resources address the management of cri-du-chat syndrome and may include treatment providers.
MedlinePlus Encyclopedia: Cri-du-Chat Syndrome
You might also find information on treatment of cri-du-chat syndrome in Educational resources and Patient support.
MedlinePlus Encyclopedia: Cri-du-Chat Syndrome
You might also find information on treatment of cri-du-chat syndrome in Educational resources and Patient support.
Where can I find additional information about cri-du-chat syndrome?
You may find the following resources about cri-du-chat syndrome helpful. These materials are written for the general public.
MedlinePlus - Health information (3 links)
Additional NIH Resources - National Institutes of Health
National Human Genome Research Institute
Educational resources - Information pages (7 links)
Patient support - For patients and families (6 links)
You may find the following resources about cri-du-chat syndrome helpful. These materials are written for the general public.
MedlinePlus - Health information (3 links)
Additional NIH Resources - National Institutes of Health
National Human Genome Research Institute
Educational resources - Information pages (7 links)
Patient support - For patients and families (6 links)
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
Gene Tests - DNA tests ordered by healthcare professionals
PubMed - Recent literature
OMIM - Genetic disorder catalog
Gene Tests - DNA tests ordered by healthcare professionals
PubMed - Recent literature
OMIM - Genetic disorder catalog
Blogs:
Great blog by a mom who has 3 kids, one of whom has Cri-du-chat syndrome
elastamom.blogspot.com
Great blog by a mom who has 3 kids, one of whom has Cri-du-chat syndrome
elastamom.blogspot.com
If you know of anyone else who blogs about Cri-du-chat, please let us know as we would like to add them to our blogroll.
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5 comments:
This is awesome!! Thank you so much for featuring "us" today!! I will post this link on our online chat board. Thanks!!!
Glad this post makes you happy! Hope it raises some awareness too!
Thank you SO much! I am sharing this with my fb friends, and asking them to spread awareness!! :)
Here is a link to more information about the genetics of Cri du Chat Syndrome that was prepared by our genetic counselor and which has links to some useful resources for those dealing with this condition: http://www.accessdna.com/condition/Cri_du_Chat_Syndrome/108. There is also a phone number listed if you need to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA
this really helped me out on my AP bio. project mainly because it was put into words i could understand, instead of "doctor"/"scientific" words.lol.thanks!
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