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
Article
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.