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| Cri du chat, or Cri-du-chat syndrome | |
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| Other names |
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| Facial features of a person with Cri du chat syndrome at the age of 8 months (A), 2 years (B), 4 years (C) and 9 years (D) | |
| Specialty | Medical genetics |
| Complications | Swallowing problems, heart defects, intellectual disability, difficulties with sucking,talking difficulties, developmental delay |
| Usual onset | At birth (congenital) |
| Causes | Chromosomal Deletion |
Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5.[1] Its name is a French term ("cat-cry" or "call of the cat") referring to the characteristic cat-like cry of affected children (sound sample [1]).[2] It was first described by Jérôme Lejeune in 1963.[3] The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio.[4]
- ^ "Learning About Cri du Chat". www.genome.gov. Retrieved 2015-12-10.
- ^ "Cri du Chat Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2015-12-10.
- ^ Lejeune J, Lafourcade J, Berger R, et al. (1963). "[3 Cases of partial deletion of the short arm of chromosome 5]". C. R. Acad. Sci. (in French). 257: 3098–102. PMID 14095841.
- ^ Chen, Harold (Apr 21, 2015). "Cri-du-chat Syndrome". Medscape. Retrieved 2015-12-09.