What is cat's cry syndrome?
Cats cry syndrome is a condition that causes infants to have different birth defects than any other baby that you see in a stroller.
The disorder is characterized by intellectual disability and delayed development, small head size, low birth weight, and weak muscle tone in infancy.
Affected individuals also have distinctive facial features, including widely set eyes (hyperthyroidism), low-set ears, a small jaw, and a rounded face. Some children with Cri-Du-chat syndrome are born with a heart defect. 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 ." Cri-du-chat Syndrome. N.p., n.d. Web. 24 Mar. 2015
Cats cry syndrome is a condition that causes infants to have different birth defects than any other baby that you see in a stroller.
The disorder is characterized by intellectual disability and delayed development, small head size, low birth weight, and weak muscle tone in infancy.
Affected individuals also have distinctive facial features, including widely set eyes (hyperthyroidism), low-set ears, a small jaw, and a rounded face. Some children with Cri-Du-chat syndrome are born with a heart defect. 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 ." Cri-du-chat Syndrome. N.p., n.d. Web. 24 Mar. 2015
What are the genetic changes related to Cat's Cry 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. 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 determine how the loss of other genes in this region contributes to the characteristic features of cri-Du-chat syndrome. |
Can cri-du-chat syndrome be inherited?
Most cases of cri-du-chat syndrome are not inherited.When reproduction occurs, a delation of chromosome 5 is missing. About 10 percent of people with cri-du-chat syndrome inherit the chromosome 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 do not cause any health problems; however, they can become unbalanced as they are passed to the next generation.
Who supports the children?
Children born with this rare genetic defect will most likely require ongoing support from a team of parents, therapists, medical professionals, educational professionals and extended family members to help the child achieve his or her maximum potential.Most individuals who have CDC have difficulty with language. Some eventually learn to use short sentences, while others express themselves with a few basic words, gestures or through sign language.
Children born with this rare genetic defect will most likely require ongoing support from a team of parents, therapists, medical professionals, educational professionals and extended family members to help the child achieve his or her maximum potential.Most individuals who have CDC have difficulty with language. Some eventually learn to use short sentences, while others express themselves with a few basic words, gestures or through sign language.
Interesting Facts
- The syndrome makes infants produce a high-pitched cry similar to a cat. (“Cri-du-chat” means “cry of the cat” in French.)
- The cry is caused by an abnormal development of the child’s larynx due to the chromosome deletion.
- A small portion of infants with cat's cry syndrome, is born with serious organ defects or other life threatening complications that can result in death.
- About one-half of children with cat's cry syndrome learn enough words to communicate, and most grown up to be happy, friendly, and sociable.
- Other characteristics may include feeding difficulties, delays in walking, hyperactivity, scoliosis, re flux, asthma and significant cognitive delays. A small number of children are born with serious organ defects and other life-threatening medical conditions, although most individuals with CDC can anticipate a normal life expectancy