Cri-du-Chat Syndrome

Madison Briggs

What is Cri-du-Chat Syndrome?

Cri-du-Chat Syndrome is a rare genetic disorder that is caused by a deletion of the 5th chromosome.

  • Also known as the 5p-syndrome and the Cat cry syndrome.

Discovery and current status for Cri-du-Chat Sydnrome

  • In 1963, the geneticist Jerome Lejeune discovered Cri-du-Chat syndrome.
  • Geneticists are looking for specific locations on the chromosome that cause particular traits.
  • They believe that the gene CTNND2 is what's responsible for the loss of intellectual ability. Research is also being done to determine how behavior is affected by Cri-du-Chat, their goal is to develop more effective therapies for treatment.

How common is Cri-du-Chat Syndrome?

  • There is a 1 in 20,000- 50,000 possibility that newborns might have Cri-du-Chat Syndrome.
  • The condition is very rare.

Is Cri-du-Chat Syndrome more common in one gender or ethnicity?

  • Slightly more common in female newborns than male newborns.
  • Found in people of all ethnic backgrounds.

Symptoms

  • High-pitched cat-like cry
  • Mental retardation
  • Delayed development
  • Distinctive facial features
  • Small head size
  • Widely spaced eyes
  • Low birth weight
  • Weak muscle tone
  • Respiratory problems
  • Heart defects
  • Hearing and sight problems

Treatment

  • There isn't medication or surgery that can decrease condition.
  • A retardation test can be taken as the child grows to see how their child compares to normal children.
  • Counseling and help from a professional is recommended for the family.
  • Regular therapy and counseling when older.
  • Physical therapy and learning groups can help the child learn normal verbal skills.

Prognosis

  • Most cases have good survival expectations but about 10% of cases die in the first year of life.
  • Even though many Cri-du-Chat Syndrome children have developmental delays, they are still able to learn and achieve many social skills during their childhood.

There is no punnet square to show how Cri-du-Chat Syndrome is inherited because their is a deletion in the 5th chromosome and you can't get this disorder from your parents.

Why isn't Cri-du-Chat inherited?

  • Most Cri-du-Chat cases are not inherited, it occurs as a random event when during the formation of reproductive cells or in early fetal development. Children who have Cri-du-Chat don't have any history of the disorder in their family.
  • Cri-du-Chat affects all races, female and male.
  • Not sex-linked because it's caused from a deletion of the 5th Chromosome.

Sources

  • "Cri-du-Chat Syndrome." Cri-du-Chat Syndrome. N.p., n.d. Web. 04 Apr. 2016.
  • "Rearch Done on Cri-du-Chat Syndrome." Sharecare. N.p., n.d. Web. 04 Apr. 2016.
  • "Learning About Cri Du Chat." Learning About Cri Du Chat. N.p., n.d. Web. 04 Apr. 2016.
  • "Cri-du-chat Syndrome." Genetics Home Reference. N.p., n.d. Web. 04 Apr. 2016.
  • "Criduchat Syndrome." Criduchat Syndrome RSS. N.p., n.d. Web. 04 Apr. 2016.