Genetic Syndromes & Genetics

Trisomy 18 (Edwards syndrome)

Trisomy 18 is a chromosomal condition, caused by an extra copy of chromosome 18, that can include encephalocele.

In short: Trisomy 18 (Edwards syndrome)

  • It is caused by an extra copy of chromosome 18.
  • It can include encephalocele among many features.
  • It is a serious condition.
  • It can be detected through genetic testing.

What it is

It is a chromosomal condition caused by an extra (third) copy of chromosome 18, also called Edwards syndrome. It affects multiple body systems and can include an encephalocele among its features.

Understanding Trisomy 18 (Edwards syndrome)

It is a serious condition involving many systems, and an encephalocele can be one of its features. Like trisomy 13, it can be detected through prenatal or postnatal genetic testing. When an encephalocele occurs with other findings, chromosomal testing may be offered to check for conditions like trisomy 18, with genetic counseling to help families understand the results and what they mean.

Why it matters

Understanding trisomy 18 helps families see why an encephalocele with additional findings prompts chromosomal testing, and why genetic counseling supports families when a chromosomal condition is found.

Common questions

What causes trisomy 18?

An extra copy of chromosome 18.

Can it include encephalocele?

Yes, it can.

How is it detected?

Through genetic (chromosomal) testing.

Bottom line

Trisomy 18 (Edwards syndrome) is caused by an extra chromosome 18 and can include encephalocele among many features.

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