Cri du chat syndrome
| Subclass of | autosomal deletion syndrome, partial deletion of the short arm of chromosome 5  |
|---|---|
| Health specialty | medical genetics |
| Described at URL | https://rarediseases.org/rare-diseases/cri-du-chat-syndrome/, https://www.webmd.com/parenting/baby/what-is-cats-cry-syndrome, https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome/ |
| External data available at URL | http://www.nanbyou.or.jp/entry/4862 |
| ICD-9-CM | 758.31 |
Cri du chat syndrome be a genetic disorder secof a partial deletion of genetic material on chromosome 5.[1] Symptoms often dey include a high pitched cry, small head, den specific facial features.[2] Complications fi include trouble breathing, trouble feeding, behavioral problems, den intellectual disability.[2]
De cause be unknown.[1] De loss of genetic material wey result in dis syndrome generally dey occur during early development.[2] Insyd about a 10th of cases e be inherited from an unaffected parent.[2] Diagnosis be suspected based on symptoms den confirmed by genetic testing.[2]
Treatment be directed at de symptoms.[2] Dis fi include special education, physical therapy, den speech therapy.[3] Sam individuals learn short sentence while odas express demaselves plus gestures.[1] Generally dem be happy den friendly.[1] Most of those wey be affected get a normal life expectancy.[1]
De condition dey affect an estimated 1 insyd 15,000 to 1 insyd 50,000 babies.[2] E dey affect females more often dan males.[3] Na e first be described by Jérôme Lejeune insyd 1963.[3][4] Ein name be de French term give "cat-cry".[3]
References
[edit | edit source]- 1 2 3 4 5 "Learning About Cri du Chat". www.genome.gov. Archived from the original on 2015-12-10. Retrieved 2015-12-10.
- 1 2 3 4 5 6 7 "Cri du chat syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 18 March 2021. Retrieved 25 March 2021.
- 1 2 3 4 "Cri du Chat Syndrome". NORD (National Organization for Rare Disorders). 2017. Archived from the original on 21 March 2021. Retrieved 25 March 2021.
- ↑ 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.
External links
[edit | edit source]
- CS1 French-language sources (fr)
- Pages using Sister project links with wikidata mismatch
- Pages using Sister project links with hidden wikidata
- Autosomal monosomies den deletions
- Crying
- Rare syndromes
- Rare genetic syndromes
- Syndromes wey dey affect de nervous system
- Syndromes plus craniofacial abnormalities
- Diseases dem name after discoverers
- Syndromes plus intellectual disabilities
- Syndromes plus microcephaly
- Translated from MDWiki