Cri du chat syndrome
(Redirected from Cri-du-Chat syndrome)
Cri du chat syndrome (also known as 5p- syndrome and cat's cry syndrome) is a rare genetic disorder due to a missing part of chromosome 5. Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children.
Characteristics[edit | edit source]
Cri du chat syndrome is characterized by a high-pitched cry that sounds like a cat, hence the name. This cry is due to abnormalities in the larynx and nervous system. Other symptoms include intellectual disability, delayed development, distinctive facial features, small head size (microcephaly), widely-spaced eyes (hypertelorism), low birth weight and weak muscle tone (hypotonia) in infancy.
Cause[edit | edit source]
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 the size of the deletion varies among affected individuals. The signs and symptoms of the condition are likely related to the loss of multiple genes on this part of the chromosome.
Diagnosis[edit | edit source]
Diagnosis of cri du chat syndrome is generally made through a physical examination during early infancy. The cat-like cry is the most prominent clinical feature in newborn children and is usually diagnostic for the cri du chat syndrome. Further diagnostic testing can be performed to confirm the diagnosis, such as a genetic testing to identify the deletion in chromosome 5.
Treatment[edit | edit source]
There is no specific treatment for cri du chat syndrome. Medical therapy is based on the individual's symptoms and needs. Early intervention with physical, occupational, and speech therapy is important for children with cri du chat syndrome to reach their full developmental potential.
Epidemiology[edit | edit source]
Cri du chat syndrome is rare, but it is one of the most common syndromes caused by a chromosomal deletion. It affects between 1 in 20,000 to 50,000 newborns. The condition is more common in females than in males.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Cri du chat syndrome is a rare disease.
| Cri du chat syndrome Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
