Cri du Chat Syndrome
Cri du Chat Syndrome
Cri du Chat Syndrome (pronounced: kree doo shah sin-drome), also known as 5p- Syndrome or Lejeune's Syndrome, is a rare genetic disorder caused by a deletion on the short arm of chromosome 5. The name is French for "cry of the cat," referring to the characteristic high-pitched cry of affected infants.
Etymology
The term "Cri du Chat" comes from French and translates to "cry of the cat" in English. This name was chosen because the characteristic cry of affected infants is high-pitched and resembles a cat's cry. The syndrome was first described by French geneticist Jerome Lejeune in 1963, hence the alternative name, Lejeune's Syndrome.
Symptoms
The primary symptoms of Cri du Chat Syndrome include a high-pitched cry that sounds like a cat, low birth weight, slow growth, and a small head size. Other symptoms can include intellectual disability, delayed development, distinctive facial features, heart defects, and behavioral problems.
Causes
Cri du Chat Syndrome is caused by a deletion of genetic material on the small arm (the "p" arm) of chromosome 5. This deletion occurs most often as a random event during the formation of reproductive cells or in early fetal development.
Diagnosis
Diagnosis of Cri du Chat Syndrome is usually based on the presence of the characteristic cat-like cry, along with physical symptoms. Genetic testing can confirm the diagnosis.
Treatment
There is no cure for Cri du Chat Syndrome. Treatment is supportive and depends on the symptoms. Physical, occupational, and speech therapy can help with development and communication skills. Regular medical, vision, and hearing checkups are also important.
See also
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