Edward's Syndrome (Trisomy 18): Difference between revisions
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== Etiology == | == Etiology == | ||
The additional chromosome most commonly | The additional chromosome is most commonly not inherited, but an effect of spontaneous malformation during cell division.<ref>Medline Plus - National Library of Medicine (NIH), Trisomy 18, Feb 2021, available from: https://medlineplus.gov/genetics/condition/trisomy-18/#inheritance [last accessed 12 March 2022].</ref> In few cases of inheritance from the mother's side, mostly happening in Partial Edward's Syndrome. | ||
== Characteristics / Clinical Presentation == | == Characteristics / Clinical Presentation == | ||
Revision as of 12:56, 12 March 2022
Definition[edit | edit source]
Edward's Syndrome, also known as Trisomy 18, is a rare genetic condition caused by a triplication of the 18th chromosome. The additional chromosome causes a complex congenital malformation syndrome predominantly affecting inner organs, overall growth and anatomical anomalies. Most babies which carry the disease die either before birth or within the first days of their life, only around 13 out of 100 survive their first birthday.[1]
Types of Edward's Syndrome[1]
- Full Edward's Syndrome (Three complete sets of the 18th chromosome): Most severe type of the disease, highest mortality rate.
- Mosaic Edward's Syndrome (Trisomy only appears in some cells): Severity of the condition depends on the number and types of affected cells, some children may live to adulthood.
- Partial Edward's Syndrome (Partial trisomy 18, only sections of the 18th chromosome are tripled): Severity of the condition depends on which section of the 18th chromosome is tripled.
Prevalence[edit | edit source]
Around 1/5,000 - 1/6,000 children which are born alive have Edward's Syndrome.[2][3] Sadly, most babies carrying the Full Edward's Syndrome die before birth. Prevalences are lower for the types of Mosaic Edward's Syndrome (1/20) and Partial Edward's Syndrome (1/100) out of all children born with Edward's Syndrome.[1] The male-female ratio is 1:3.[3]
Etiology[edit | edit source]
The additional chromosome is most commonly not inherited, but an effect of spontaneous malformation during cell division.[4] In few cases of inheritance from the mother's side, mostly happening in Partial Edward's Syndrome.
Characteristics / Clinical Presentation[edit | edit source]
Diagnostics[edit | edit source]
Differential Diagnosis[edit | edit source]
Associated Co-morbidities[edit | edit source]
Medication[edit | edit source]
Medical Management[edit | edit source]
Physical Therapy Management[edit | edit source]
References[edit | edit source]
- ↑ 1.0 1.1 1.2 National Health Service, Edward's syndrome (trisomy 18), Sept 2020, Available from: https://www.nhs.uk/conditions/edwards-syndrome/, [last accessed 12 March 2022].
- ↑ DocCheck Flexikon, Edwards Syndrom, 18. April 2011, Available from: https://flexikon.doccheck.com/de/Edwards-Syndrom [last accessed 12 March 2022].
- ↑ 3.0 3.1 MSD Manuals, Trisomie 18, Okt 2018, Availabe from: https://www.msdmanuals.com/de-de/profi/p%C3%A4diatrie/chromosomen-und-genanomalien/trisomie-18 [last accessed 12 March 2022].
- ↑ Medline Plus - National Library of Medicine (NIH), Trisomy 18, Feb 2021, available from: https://medlineplus.gov/genetics/condition/trisomy-18/#inheritance [last accessed 12 March 2022].
