Monday, February 16, 2009

Symptoms

Some symptoms are:
  • Cry that is high-pitched and sounds like a cat
  • Downward slant to the eyes
  • Low birth weight and slow growth
  • Low-set or abnormally shaped ears
  • Partial webbing of fusing of fingers and toes
  • Single line on the palm of the hand (simian crease)
  • Skin tags just in front of the ear
  • Slow or incomplete development of motor skills
  • Small head
  • Small jaw
  • Wide-set eyes

Interesting Facts

  • The geneticist Jerome Lejeune identified cri du chat syndrome in 1963. He also discovered the genetic abnormality that causes Down syndrome.
  • Cri du chat is one of the most common syndrome caused by a chromosomal deletion. It affects between 1 in 20,000 and 1 in 50,000 babies.
  • In 80 percent of the cases, the chromosome carrying the deletion comes from the father's sperm rather than the mother's egg.
  • Each year in the United States, approximately 50 to 60 children are born with cri du chat syndrome.

Sunday, February 15, 2009

Economics Envolved

The cost of long term care is towards speech therapy, physical therapy to improve poor muscle tone, and counseling, so if the people with this syndrome get special help, they can participate in daily activities.

Treatment and Prognosis

No specific treatment is available for this syndrome. Children born with this genetic condition will most likely require ongoing support from a team made up of the parents, therapists, and medical and educational professionals to help a child achieve his or her maximum potential. With early and consistent educational intervention, as well as physical and language therapy, children with cri du chat syndrome are capable of reaching their fullest potential and can lead full and meaningful lives. With genetic counseling, the child can live a more normal life with their family. People with cri du chat have a normal life span unless born with serious organ defects. 

Manner of Inheritance

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 or in early fetal development. People with cri du chat syndrome typically have no history of the condition in their family. Only about 10% of the people with cri du chat syndrome inherit the chromosome with the deleted segment from an unaffected parent. The mutation is on chromosome 5. Cri du chat is not sex linked because it is on chromosome 5 and not on the x or y chromosome. Cri du chat syndrome is neither dominant or recessive. Cri du chat is polygenetic because multiple genes from chromosome 5 is deleted. 

Diagnosis

The diagnosis of this disorder is basically tested at birth, you can tell by the body features and the cat like cry.