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Condition report · Respiratory

Congenital Diaphragmatic Hernia

A birth defect in which the diaphragm does not form completely, allowing abdominal organs to move into the chest and affecting lung development. Most cases are not inherited in a simple way; this report covers the rare forms linked to single genes.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Congenital Diaphragmatic Hernia

Incomplete formation of the diaphragm present at birth, which in a minority of families is linked to single genes such as ZFPM2, GATA4, NR2F2, ALDH1A2 or PLS3, often with incomplete penetrance.

What a diagnosis changes

Knowing is mainly relevant to family planning, as it can inform recurrence risk and the option of prenatal imaging in a future pregnancy.

Genes analysed

Also known as

agenesis of hemidiaphragm; CDH; congenital diaphragmatic defect; diaphragmatic hernia; unilateral agenesis of diaphragm

Includes 5 related subtypes ↓
  • diaphragmatic hernia 1
  • diaphragmatic hernia 2
  • diaphragmatic hernia 3
  • diaphragmatic hernia 4, with cardiovascular defects
  • hernia, anterior diaphragmatic
MONDO:0005711Orphanet 2140MedGen 68625

Limitations

  • Many genetic causes of congenital diaphragmatic hernia are chromosome-level changes or copy-number deletions (for example at 15q26 or 8p23.1), which need copy-number analysis and may not be detected.

Other respiratory conditions

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