Diaphragmatic hernia

Diaphragmatic hernia is a congenital anomaly in which there is an abnormal opening in the diaphragm, the muscle located between the chest and the abdomen. Occasionally, some abdominal organs may move into the chest cavity. It is a rare condition with an incidence of 1-5/10,000 births.

Diaphragmatic hernia is a rare anomaly that occurs during fetal development. When the diaphragm fails to develop properly, abdominal organs can migrate into the chest cavity. The exact cause of its occurrence is unknown, but it is believed to be due to a complex combination of genetic and environmental factors, the former being more important. In addition, 40% of babies born with this condition also have other associated problems.

Symptoms

The most obvious sign when the baby is born is respiratory problems, due to ineffective diaphragmatic movement when breathing and possible compression of the lungs. This may result in bluish skin color, rapid breathing and/or tachycardia.

Prevention

At present, there is no known way to prevent diaphragmatic hernia. Seventy percent of diaphragmatic malformations have no syndromic origin, while the remaining 30% are associated with the presence of other syndromes in which case, parents could make use of genetic counseling to prevent the development of these syndromes.

Number of observed variants

13.5 million variants

Number of risk loci

10 loci

Genes analyzed

ADAMTS16 AGBL3 BARX1 CRTC1 EFEMP1 MDFIC2 RP1L1 UQCC1 WT1 ZNF391

Bibliography

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