Is Cri du Chat life threatening?
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.
Which findings are most associated with Cri du Chat?
The most characteristic finding is a high-pitched, monotonous cry. Other features include microcephaly, low birth weight, hypotonia, psychomotor retardation, and craniofacial malformations.
How does cri du chat syndrome affect everyday life?
Children with Cri du Chat syndrome usually have some motor delay, especially in walking. Some children walk as early as 2 years, but others can take up to 6 years because of low muscle tone. Some might never walk. Children with Cri du Chat syndrome can have mild to severe intellectual disability.
How does Cri du Chat affect the brain?
Cri-du-Chat syndrome, or “cat-cry syndrome,” is due to a large deletion of the terminal short arm of chromosome 5. Therefore, the disorder is also called the 5p-syndrome. Characteristic clinical manifestations of this syndrome are cat-like high-pitched cries, psychomotor retardation, microcephaly and hypertelorism.
Can Cat Cry Syndrome Be Cured?
There is no cure for cri du chat syndrome. Treatment aims to stimulate the child and help them to reach their full potential and can include: physiotherapy to improve poor muscle tone. speech therapy.
What is the life expectancy of someone with Cri du Chat?
The survival for children with cri du chat is generally good. Most syndrome related deaths occur within the first year of life. Several children have lived to be over 50 years of age. Genetic counseling is recommended for affected individuals and their families.
Does Cri du Chat affect certain populations?
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 causes the cat cry in Cri du Chat?
“Cri-du-chat” means “cry of the cat” in French. Infants with the syndrome produce a high-pitched cry that sounds like a cat. The larynx develops abnormally due to the chromosome deletion, which affects the sound of the child’s cry.
Can people with Cri du Chat have babies?
Previous investigators have noted the lack of information about the reproductive fitness of patients with this disorder. This report demonstrates that females with cri du chat syndrome are fertile, can gestate and likewise deliver affected offspring, which has significant management and counseling implications.
Is Cri du Chat inherited?
Inheritance. Most cases of cri-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.