15 Facts About Cri Du Chat Syndrome

Cri-Du Chat (cat’s cry) is a rare genetic disorder that results when a piece of the 5p chromosome is deleted. The name is French for “cry of the cat,” referring to the high-pitched cat-life cry. Other characteristics include intellectual disability, hyperactivity, and delay development. below are some more facts on this rare disease.

  • Cri du Chat is French for cat’s cry or crying cat
  • The syndrome gets its name from the infant cry which is similar to a meowing kitten
  • The cry is due to issues with the larynx and nervous system
  • About one third of children lose the cry by the age of 2 years.
  • It is also known as 5p- (5p minus)
  • The size of the deletion varies among affected individuals
  • Cri du chat syndrome is not inherited.
  • About 10 percent of people with cri du chat syndrome inherit it from an unaffected parent.
  • Is a chromosomal condition that results when a piece of chromosome 5 is missing
  • People diagnosed with cri du chat tend to have distinctive facial features
  • Occurs in an estimated 1 in 20,000 to 50,000 newborns
  • Cri du chat is found in  people of all ethnic backgrounds
  • It was first described by Jerome Lejeune in 1963
  • It is more common in females by a 4.3 ratio
  • It is a rare genetic disorder
  • In some cases, cri du chat syndrome may go undiagnosed
  • Children born with cri du chat syndrome are more likely to have developmental delays
  • The symptoms of cri du chat vary from person to person
  • Both children and adults with cri du chat are often seen as cheerful and friendly.

 

References

Genetic and Rare Diseases Information Center

National Organizations of Rare Diseases

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10 Important Facts On Trisomy 18

Today is National Trisomy Awareness Day. Below are 10 important facts on Trisomy 18.

  • It is also known as Edwards Syndrome
  • It is a condition caused by an error in cell division
  • An extra chromosome in 18 develops
  • Occurs in 1 out of every 2500 pregnancies in the United States
  • It is 1 in 6000 live births
  • Only 50% of babies who are carried to term will be born alive
  • Children are often born with heart defects
  • Features include a small head, small jaw, clenched fists and severe intellectual disabilities
  • It is named after John Hilton Edwards, who first described the syndrome in 1960
  • It affects different organ systems

 

Turner Syndrome Characteristics

Turner Syndrome is a rare condition that affects only females. This occurs when the X chromosome is partially or totally missing.

Medical Sites

Boston Children’s Hospital
Genetics Home Reference
Kids Health
Mayo Clinic
Medscape
Wikipedia

Associations

Turner Syndrome Foundation
Turner Syndrome Society of the United States
Turner Syndrome Support Society- UK