Congenital diaphragmatic hernia causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Arooj Naz, M.B.B.S

Overview

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.

Causes

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

• Genetic factors
• Teratogenic exposures

Genetic factors

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:

Aneuploidies Associated with CDH Development

Aneuploidies	Clinical Features
Trisomy 13	Intellectual disability Rocker-bottom feet Microcephaly Cleft lip and palate Holoprosencephaly Polydactyly Cutis aplasia Congenital heart disease Polycystic kidney disease Omphalocele
Trisomy 18	Intellectual disability Rocker-bottom feet Prominent occiput Clenched fists with overlapping fingers Low-set ears Congenital heart disease Omphalocele
Trisomy 21	Intellectual disability Flat facial features Prominent epicanthal folds Single palmar crease Gap between first and second toes Gastrointestinal anomalies (duodenal atresia and hirschsprung disease) Congenital heart disease Brushfield spots
Turner syndrome	Short stature Ovarian dysgenesis Shield chest Bicuspid aortic valve Coarctation of the aorta Webbed neck or cystic hygroma Horseshoe kidney

Chromosome Anomalies Associated with CDH Development (Table adapted from )

Chromosomal Anomaly	Clinical Features
Pallister-Killian syndrome (tetrasomy 12p)	Prenatal Findings: short limbs, CNS anomalies, hydrops fetalis Postnatal findings: sparse hair, broad forehead, low set ears, broad hands, seizures, congenital heart defects Normal growth
Wolf-Hirschhorn syndrome (deletion 4p16.3)	Seizures Stunted growth
Deletion 1q41-q42	Limb anomalies Seizures
Deletion 15q26.2	Cryptorchidism Congenital heart defects Stunted growth
Deletion 17q12	Genitourinary defects Maturity-onset diabetes of the young Intellectual disability

Syndromes Associated with CDH Development (Table adapted from )

Syndrome	Mode of Inheritance	Clinical Features
Donnai-Barrow syndrome	AR	Enlarged anterior fontanelle Sensorineural hearing loss Proteinuria
LTBP4-related cutis laxa	AR	Loose skin Emphysema GI & bladder diverticula
Cardiac-urogenital syndrome	AD	Congenital heart defects Genitourinary defects
Tonne-Kalscheuer syndrome	X-linked	Intellectual disability Genitourinary defects

Nutritional deficiencies/ Teratogenic exposures

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