Congenital diaphragmatic hernia has a mortality rate of 40–62%, with outcomes being more favorable in the absence of other congenital abnormalities. Individual rates vary greatly dependent upon multiple factors: size of hernia, organs involved, additional birth defects, and/or genetic problems, amount of lung growth, age and size at birth, type of treatments, timing of treatments, complications (such as infections) and lack of lung function.

Bochdalek hernias make up about 0.17% to 6% of all diaphragmatic hernia cases and about one in every 2200 to 12,500 births every year. Babies who are born with a Bochdalek hernia are more than likely to have another birth defect caused by the hernia. About twenty percent of those children born with a Bochdalek hernia, also have a congenital heart defect. In addition, infants born with this condition may also have other abnormalities. "Between five and sixteen [percent of infants] have a chromosomal abnormality." In most cases, left-sided hernias or Bochdalek hernias have a ratio of 3:2 of males to females. In other words, Bochdalek hernias are more common in men.

A deficiency of folate itself does not cause neural tube defects. The association seen between reduced neural tube defects and folic acid supplementation is due to a gene-environment interaction such as vulnerability caused by the C677T Methylenetetrahydrofolate reductase (MTHFR) variant. Supplementing folic acid during pregnancy reduces the prevalence of NTDs by not exposing this otherwise sub-clinical mutation to aggravating conditions. Other potential causes can include folate antimetabolites (such as methotrexate), mycotoxins in contaminated corn meal, arsenic, hyperthermia in early development, and radiation. Maternal obesity has also been found to be a risk factor for NTDs. Studies have shown that both maternal cigarette smoking and maternal exposure to secondhand smoke increased the risk for neural tube defects in offspring. A mechanism by which maternal exposure to cigarette smoke could increase NTD risk in offspring is suggested by several studies that show an association between cigarette smoking and elevations of homocysteine levels. Cigarette smoke during pregnancy, including secondhand exposure, can increase the risk of neural tube defects. All of the above may act by interference with some aspect of normal folic acid metabolism and folate linked methylation related cellular processes as there are multiple genes of this type associated with neural tube defects.

Bochdalek hernia can be a life-threatening condition. Approximately 85.3% of newborns born with a Bochdalek hernia are immediately high risk. Infants born with a Bochdalek hernia have a "high mortality rate due to respiratory insufficiency". Between 25–60% of infants with a Bochdalek hernia die. The lungs, diaphragm, and digestive system are all forming at the same time, so when a Bochdalek hernia permits the abdominal organs to invade the chest cavity rather than remain under the diaphragm in the correct position, it puts the infant in critical condition. These "foreign bodies" in the chest cavity compress the lungs, impairing their proper development and causing pulmonary hypoplasia. Since the lungs of infants suffering from a Bochdalek hernia have fewer alveoli than normal lungs, Bochdalek hernias are life-threatening conditions due to respiratory distress. Also, if the invasion of the intestine or stomach punctures the lung, then the lungs cannot fill completely with air. The baby will not be healthy or stable with this condition because he or she cannot take in enough air and oxygen to keep the body operating properly. Like the lungs, the intestines may also have trouble developing correctly. If the intestines are trapped within the lungs, then the lungs and intestines may not be receiving the amount of blood they need to stay healthy and function properly.

Assisted reproductive technology (ART) is a general term referring to methods used to achieve pregnancy by artificial or partially artificial means. According to the CDC, in general, ART procedures involve surgically removing eggs from a woman's ovaries, combining them with sperm in the laboratory, and returning them to the woman's body or donating them to another woman. ART has been associated with epigenetic syndromes, specifically BWS and Angelman syndrome. Three groups have shown an increased rate of ART conception in children with BWS. A retrospective case control study from Australia found a 1 in 4000 risk of BWS in their in-vitro population, several times higher than the general population. Another study found that children conceived by in vitro fertilisation (IVF) are three to four times more likely to develop the condition. No specific type of ART has been more closely associated with BWS. The mechanism by which ART produces this effect is still under investigation.

Studies have shown that obesity of the mother increases the risk of neural tube disorders such as iniencephaly by 1.7 fold while severe obesity increases the risk by over 3 fold.

The incidence of VACTERL association is estimated to be approximately 1 in 10,000 to 1 in 40,000 live-born infants. It is seen more frequently in infants born to diabetic mothers. While most cases are sporadic, there are clearly families who present with multiple involved members.

In a newborn boy thought to have Fryns syndrome, Clark and Fenner-Gonzales (1989) found mosaicism for a tandem duplication of 1q24-q31.2. They suggested that the gene for this disorder is located in that region. However, de Jong et al. (1989), Krassikoff and Sekhon (1990), and Dean et al. (1991) found possible Fryns syndrome associated with anomalies of chromosome 15, chromosome 6, chromosome 8(human)and chromosome 22, respectively. Thus, these cases may all represent mimics of the mendelian syndrome and have no significance as to the location of the gene for the recessive disorder.

By array CGH, Slavotinek et al. (2005) screened patients with DIH and additional phenotypic anomalies consistent with Fryns syndrome for cryptic chromosomal aberrations. They identified submicroscopic chromosome deletions in 3 probands who had previously been diagnosed with Fryns syndrome and had normal karyotyping with G-banded chromosome analysis. Two female infants were found to have microdeletions involving 15q26.2 (see 142340), and 1 male infant had a deletion in band 8p23.1 (see 222400).

Patients with abnormal cardiac and kidney function may be more at risk for hemolytic uremic syndrome

Folic acid supplementation reduces the prevalence of neural tube defects by approximately 70% of neural tube defects indicating that 30% are not folate-dependent and are due to some cause other than alterations of methylation patterns. Multiple other genes related to neural tube defects exist which are candidates for folate insensitive neural tube defects. There are also several syndromes such as Meckel syndrome, and Triploid Syndrome which are frequently accompanied by neural tube defects that are assumed to be unrelated to folate metabolism

Once a mother has given birth to a child with iniencephaly, risk of reoccurrence increases to 1-5%.

In France, Aymé, "et al." (1989) estimated the prevalence of Fryns syndrome to be 0.7 per 10,000 births based on the diagnosis of 6 cases in a series of 112,276 consecutive births (live births and perinatal deaths).

Beckwith–Wiedemann syndrome has an estimated incidence of one in 13,700; about 300 children with BWS are born each year in the United States. The exact incidence of BWS is unknown because of the marked variability in the syndrome's presentation and difficulties with diagnosis. The number of reported infants born with BWS is most likely low because many are born with BWS, but have clinical features that are less prominent and therefore missed. BWS has been documented in a variety of ethnic groups and occurs equally in males and females.

Children conceived through In vitro fertilization have a three to fourfold increased chance of developing Beckwith–Wiedemann syndrome. It is thought that this is due to genes being turned on or off by the IVF procedures.

The inheritance of Impossible syndrome is suspected to be autosomal recessive, which means the affected gene is located on an autosome, and two copies of the gene - one from each parent - are required to have an infant with the disorder.

This condition can often be diagnosed before birth and fetal intervention can sometimes help, depending on the severity of the condition.

Infants born with diaphragmatic hernia experience respiratory failure due to both pulmonary hypertension and pulmonary hypoplasia. The first condition is a restriction of blood flow through the lungs thought to be caused by defects in the lung. Pulmonary hypoplasia or decreased lung volume is directly related to the abdominal organs presence in the chest cavity which causes the lungs to be severely undersized, especially on the side of the hernia.

Survival rates for infants with this condition vary, but have generally been increasing through advances in neonatal medicine. Work has been done to correlate survival rates to ultrasound measurements of the lung volume as compared to the baby's head circumference. This figure known as the lung to head ratio (LHR). Still, LHR remains an inconsistent measure of survival. Outcomes of CDH are largely dependent on the severity of the defect and the appropriate timing of treatment.

A small percentage of cases go unrecognized into adulthood.

The treatment of pentalogy of Cantrell is directed toward the specific symptoms that are apparent in each individual. Surgical intervention for cardiac, diaphragmatic and other associated defects is necessary. Affected infants will require complex medical care and may require surgical intervention. In most cases, pentalogy of Cantrell is fatal without surgical intervention. However, in some cases, the defects are so severe that the individual dies regardless of the medical or surgical interventions received.

The specific treatment strategy will vary from one infant to another based upon various factors, including the size and type of abdominal wall defect, the specific cardiac anomalies that are present, and the particular type of ectopia cordis. Surgical procedures that may be required shortly after birth include repair of an omphalocele. At this time, physicians may also attempt to repair certain other defects including defects of the sternum, diaphragm and the pericardium.

In severe cases, some physicians advocate for a staged repair of the defects associated with pentalogy of Cantrell. The initial operation immediately after birth provides separation of the peritoneal and pericardial cavities, coverage of the midline defect and repair of the omphalocele. After appropriate growth of the thoracic cavity and lungs, the second stage consists of the repair of cardiac defects and return of the heart to the chest. Eventually, usually by age 2 or 3, reconstruction of the lower sternum or epigastrium may be necessary.

Other treatment of pentalogy of Cantrell is symptomatic and supportive.

Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum.

Its prevalence is less than 1 in 1000000.

It was characterized in 1958.

A locus at Xq25-26 has been described.

Treatment for a diaphragmatic hernia usually involves surgery, with acute injuries often repaired with monofilament permanent sutures.

The occurrence of ectopia cordis is 8 per million births. It is typically classified according to location of the ectopic heart, which includes:

- Cervical

- Thoracic

- Thoracoabdominal

- Abdominal

Thoracic and thoraco-abdominal ectopia cordis constitute the vast majority of known cases.

These hernias should be repaired because of the high risk of strangulation; fortunately, surgery is straightforward, with only larger defects requiring a mesh prosthesis. Varied Spigelian hernia mesh repair techniques have been described, although evidence suggests laparoscopy results in less morbidity and shorter hospitalization compared with open procedures. Mesh-free laparoscopic suture repair is feasible and safe. This novel uncomplicated approach to small Spigelian hernias combines the benefits of laparoscopic localization, reduction, and closure without the morbidity and cost associated with foreign material.

Impossible Syndrome, or Chondrodysplasia situs inversus imperforate anus polydactyly, is a complex combination of human congenital malformations (birth defects).

The malformations include chondrodysplasia (improper growth of bone and cartilage), situs inversus totalis (chest and abdominal organs all a mirror image of normal), cleft larynx and epiglottis, hexadactyly (six digits) on hands and feet, diaphragmatic hernia, pancreatic abnormalities, kidney abnormal on one side and absent on the other side, micropenis and ambiguous genitalia, and imperforate anus.

Only one case of Impossible Syndrome has been reported; the infant was premature and stillborn.

Diaphragmatic hernia is a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity. Treatment is usually surgical.

A Spigelian hernia (or lateral ventral hernia) is a hernia through the Spigelian fascia, which is the aponeurotic layer between the rectus abdominis muscle medially, and the semilunar line laterally. These are generally interparietal hernias, meaning that they do not lie below the subcutaneous fat but penetrate between the muscles of the abdominal wall; therefore, there is often no notable swelling.

Spigelian hernias are usually small and therefore risk of strangulation is high. Most occur on the right side. (4th–7th decade of life.) Compared to other types of hernias they are rare.

In utero exposure to cocaine and other street drugs can lead to hydranencephaly.

A direct inguinal hernia is less common (~25–30% of inguinal hernias) and usually occurs in men over 40 years of age.

Men have an 8 times higher incidence of inguinal hernia than women.