File:Trisomy_17-18_2.jpg · Wikimedia Commons · See Wikimedia Commons
Edwards syndrome
Sign in to saveAlso known as Complete trisomy 18 syndrome (disorder), trisomy 18, 18 trisomy, Edwards disease, Edwards syndrome, E3 trisomy, complete trisomy 18 syndrome, chromosome 18 duplication
human disease
Key facts
- Other names
- Trisomy 18 (T18 ), chromosome 18 duplication, trisomy E syndrome, Edwards syndrome
- Specialty
- Medical genetics , pediatrics
- Symptoms
- Small head , small jaw , clenched fists with overlapping fingers, profound intellectual disability
- Complications
- Heart defects
- Usual onset
- Present at birth
- Causes
- Third copy of chromosome 18 (usually new mutation)
- Risk factors
- Older mother
- Diagnostic method
- Ultrasound , amniocentesis
- Treatment
- Supportive care
- Prognosis
- 5–10% survive past a year old
- Frequency
- 1 per 5,000 births
via Wikipedia infobox
Research
4,229 papers- Double trisomy 48,XXX,+18 with multiple dysmorphic features.World journal of pediatrics : WJP · 2015
- Surveillance guidelines for children with trisomy 18.American journal of medical genetics. Part A · 2021
- [Double aneuploidy (trisomy X, trisomy 18) in a newborn with trisomy 18 phenotype].Archivos argentinos de pediatria · 2013
- Trisomies.Pediatrics in review · 2018
- Holoprosencephaly.American journal of obstetrics and gynecology · 2020
via PubMed
Wikidata facts
- Subclass of
- disease
- Named after
- John H. Edwards
- Image
- Overlapping fingers.JPG
Show 8 more facts
- discoverer or inventor
- John H. Edwards
- exact match
- identifiers.org/doid/DOID:1085
- health specialty
- pediatrics
- NCI Thesaurus ID
- C101362
- Commons category
- Edwards syndrome
- ICD-9-CM
- 758.2
- on focus list of Wikimedia project
- WikiProject Medicine
- described at URL
- rarediseases.org/rare-diseases/trisomy-18-syndrome
via Wikidata · CC0
~8 min read
Encyclopedic overview
Trisomy 18, also known as Edwards syndrome, is a genetic disorder. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability.
Most cases of trisomy 18 are due to problems during the formation of the reproductive cells or during early development. The chance of this condition occurring increases with the mother's age. Rarely, cases may be inherited. Occasionally, not all cells have the extra chromosome, known as mosaic trisomy, and symptoms in these cases may be less severe. An ultrasound during pregnancy can increase suspicion for the condition, which can be confirmed by amniocentesis.
Excerpted from Wikipedia’s “Edwards syndrome” article, available under the CC BY-SA 4.0 licence.