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How many people have been affected by Cri du chat?
Cri du Chat syndrome is a rare genetic disorder that affects approximately 1 in 37,000 to 50,000 people in the population.
What race does Cri du chat affect?
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.
What age group is affected by Cri du chat?
The larynx develops abnormally due to the chromosome deletion, which affects the sound of the child’s cry. The syndrome is more noticeable as the child ages, but becomes difficult to diagnose past age 2. Cri-du-chat also carries many disabilities and abnormalities.
What gene is affected by Cri du chat?
Cri du chat syndrome is a rare genetic disorder caused by a missing section on a particular chromosome known as Chromosome 5. Sometimes, material from another chromosome is missing as well. Around one in every 50,000 or so babies is diagnosed with this disorder.
What is the survival rate of Cri du Chat?
With contemporary interventions, the chance of survival to adulthood is possible. Currently, the mortality rate of cri-du-chat syndrome is 6-8% in the overall population. Pneumonia, aspiration pneumonia, congenital heart defects, and respiratory distress syndrome are the most common causes of death.
How does Cri du Chat affect everyday life?
Moderate to severe intellectual disability is present in most cases. Speech development is especially delayed in children with cri du chat syndrome. Affected children usually understand speech better than they can communicate. Some children may display hyperactivity or self-abusive behaviors.
What happens if you are missing chromosome 5?
A deletion in the short arm of chromosome 5 is an example of an unbalanced translocation, which is a chromosomal rearrangement with extra or missing genetic material. Unbalanced translocations can cause birth defects and other health problems such as those seen in cri-du-chat syndrome.
How often does Cri du chat syndrome occur?
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. Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5.
Do you have a family history of Cri du Chat?
People with cri du chat typically have no history of the condition in their family. About 10 percent of people with cri du chat syndrome inherit the chromosome with a deleted segment from an unaffected parent.
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 determine how the loss of other genes in this region contributes to the characteristic features of cri-du-chat syndrome. Most cases of cri-du-chat syndrome are not inherited.
Can a de novo deletion cause Cri du chat syndrome?
The parents of a child with a “de novo” deletion usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality. In approximately 10-15 percent of cases, cri du chat syndrome may result from a balanced translocation involving chromosome 5p and another chromosome or chromosomes.