Congenital diaphragmatic hernia causes

The underlying causes for congenital diaphragmatic hernia are still to be determined, but there have been studies to show a high rate of incidence in occurrence with certain exposures. These include genetic factors and teratogenic exposures such as allopurinol, lithium and mycophenolate mofetil. Genetic factors can further be sub-divided into aneuploidies, chromosomal anomalies and syndromes. Aneuploidies include Trisomy 13, Trisomy 18, Trisomy 21, and Turner syndrome. Chromosomal anomalies include Pallister-Killian syndrome, Wolf-Hirschhorn syndrome and various other gene deletion syndromes. Associated syndromes include Donnai-Barrow syndrome, LTBP4-related cutis laxa, Cardiac-urogenital syndrome and Tonne-Kalscheuer syndrome.

Although the aetiology for CDH remains largely unclear, it has been presumed that many factors may contribute to the condition. These include:^[1]

• Genetic factors
• Teratogenic exposures

To date, there have been many genetic factors associated with the development of CDH. These range from gene deletions and mutations to aneuploidies. There have also been some syndromes associated with CDH. Disturbances in the retinoid-signalling pathway may also contribute to disease development but are still being studied.

• Aneuploidies
• Chromosomal Anomalies
• Syndromes

Although there are a multitude of associated conditions, the following have been shown to have high rates of occurrence in children concomitantly affected with CDH:

• Allopurinol
• Lithium
• Mycophenolate mofetil
• Phenmetrazine
• Thalidomide
• Quinine