Cri du chat syndrome
Cri du chat syndrome
Cri du chat syndrome (pronounced: kree doo shah) is a rare genetic disorder that results from a deletion (monosomy) of genetic material on the short arm of chromosome 5. The name of this condition, which is "cat's cry" in French, refers to the characteristic cry of affected infants, which is similar to the mewing of a kitten. This cry is caused by abnormal development of the larynx (voice box).
Etymology
The term "Cri du chat" comes from French and translates to "cry of the cat," referring to the distinctive cry of children with this disorder. The "syndrome" part of the name indicates that it is a disorder characterized by a set of symptoms that occur together.
Symptoms
The symptoms of Cri du chat syndrome often include a high-pitched cry that sounds like that of a cat, low birth weight, slow growth, and microcephaly (a smaller than normal head size). Other symptoms can include intellectual disability, delayed development, distinctive facial features, heart defects, and other health problems.
Causes
Cri du chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This deletion occurs very early in the development of an embryo and is present in every cell of the body.
Diagnosis
Diagnosis of Cri du chat syndrome is based on the distinctive cry, physical symptoms, and a genetic test that can identify the chromosomal deletion.
Treatment
There is no cure for Cri du chat syndrome. Treatment is supportive and depends on the specific symptoms and severity in each person. It may include physical, occupational, and speech therapy, as well as educational support.
See also
External links
- Medical encyclopedia article on Cri du chat syndrome
- Wikipedia's article - Cri du chat syndrome
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