How often does Cri du Chat occur?
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.
Is Cri du Chat more common in a certain race?
The disorder is believed to be very rare—only about 50-60 infants are born with Cri du Chat in the United States each year. The condition tends to affect females more often than males and is diagnosed in people of all ethnic backgrounds.
What are the characteristics of cri du chat syndrome?
The clinical symptoms of cri du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features, small head size (microcephaly), widely-spaced eyes (hypertelorism), low birth weight and weak muscle tone (hypotonia) in infancy.
Why would there be so much variation in the degree of seriousness of cri du chat syndrome?
Cri du chat syndrome is caused by a missing piece ( deletion ) of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size and location of the deletion varies among affected individuals but studies suggest that larger deletions tend to result in more severe symptoms than smaller deletions.
How many people are affected by Cri du chat syndrome?
Cri du Chat syndrome is a rare genetic disorder that affects approximately 1 in 37,000 u0003to 50,000 people in the population. Cri du Chat syndrome is caused by a missing piece of information (deletion) on the short arm u0003of chromosome 5.
What are the characteristics of Cri du Chat?
Other characteristics may include feeding difficulties, delays in walking, hyperactivity, scoliosis, and significant retardation. A small number of children are born with serious organ defects and other life-threatening medical conditions, although most individuals with cri du chat syndrome have a normal life expectancy.
When does chromosomal deletion occur in Cri du Chat?
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 (eggs or sperm) or in early fetal development.
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.