User:Mr. Ibrahem/Cri du chat syndrome
| Mr. Ibrahem/Cri du chat syndrome | |
|---|---|
| Other names | Chromosome 5p deletion syndrome, 5p− syndrome, cat cry syndrome, Lejeune syndrome[1][2] |
 | |
| Facial features in Cri du chat syndrome at the age of 8 months (A), 2 years (B), 4 years (C) and 9 years (D)[3] | |
| Specialty | Medical genetics |
| Symptoms | High pitched cry, small head, specific facial features[1] |
| Complications | Trouble breathing, trouble feeding, behavioral problems, intellectual disability[1] |
| Usual onset | Present at birth[1] |
| Causes | Unknown[4] |
| Diagnostic method | Suspected based on symptoms, confirmed by genetic testing[1] |
| Differential diagnosis | Wolf-Hirschhorn syndrome[2] |
| Treatment | Based on symptoms[1] |
| Prognosis | Typically normal life expectancy[4] |
| Frequency | ~ 1 in 30,000 newborns[1] |
Cri du chat syndrome is a genetic disorder due to a partial deletion of genetic material on chromosome 5.[4] Symptoms often include a high pitched cry, small head, and specific facial features.[1] Complications may include trouble breathing, trouble feeding, behavioral problems, and intellectual disability.[1]
The cause is unknown.[4] The loss of genetic material that results in this syndrome generally occurs during early development.[1] In about a 10th of cases it is inherited from an unaffected parent.[1] Diagnosis is suspected based on symptoms and confirmed by genetic testing.[1]
Treatment is directed at the symptoms.[1] This may include special education, physical therapy, and speech therapy.[2] Some individuals learn short sentence while others express themselves with gestures.[4] Generally they are happy and friendly.[4] Most of those affected have a normal life expectancy.[4]
The condition affects an estimated 1 in 15,000 to 1 in 50,000 babies.[1] It affects females more often than males.[2] It was first described by Jérôme Lejeune in 1963.[2][5] Its name is the French term for "cat-cry".[2]
References[edit]
- ^ a b c d e f g h i j k l m n "Cri du chat syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 25 March 2021.
- ^ a b c d e f "Cri du Chat Syndrome". NORD (National Organization for Rare Disorders). 2017. Retrieved 25 March 2021.
- ^ Cerruti Mainardi, Paola (2006). "[No title found]". Orphanet Journal of Rare Diseases. 1 (1): 33. doi:10.1186/1750-1172-1-33.
{{cite journal}}: CS1 maint: unflagged free DOI (link) - ^ a b c d e f g "Learning About Cri du Chat". www.genome.gov. 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.