It involves three major defects:

- A failure of the diaphragm to completely close during development

- Herniation of the abdominal contents into the chest

- Pulmonary hypoplasia

The diagnosis of congenital diaphragmatic eventration is used when there is abnormal displacement (i.e. elevation) of part or all of an otherwise intact diaphragm into the chest cavity. This rare type of CDH occurs because in the region of eventration the diaphragm is thinner, allowing the abdominal viscera to protrude upwards.

Concerns that arise due to abdominal wall defects can be threatening and require immediate and intensive medical care. Some infections may persist for long periods of time and lead to serious complications, such as feeding problems, which can cause the infant to require several surgeries. Since these complications can be severe, it is recommended that parents work closely with a team of physicians throughout the duration of the treatment. After the treatment is completed, children with abdominal wall defects may need additional help. Additional services are usually necessary for with omphalocele and the associated chromosomal abnormalities and birth defects that also arise. Treatments in these cases are long-term and focus on the physical and developmental difficulties that the children will endure. The parents may find this process difficult and need assistance in dealing with the process by a service that is provided by the healthcare team.

The causes of umbilical hernia are congenital and acquired malformation, but an apparent third cause is really a cause of a different type, a paraumbilical hernia.

In normal Bochdalek hernia cases, the symptoms are often observable simultaneously with the baby's birth. A few of the symptoms of a Bochdalek Hernia include difficulty breathing, fast respiration and increased heart rate. Also, if the baby appears to have cyanosis (blue-tinted skin) this can also be a sign. Another way to differentiate a healthy baby from a baby with Bochdalek Hernia, is to look at the chest immediately after birth. If the baby has a Bochdalek Hernia it may appear that one side of the chest cavity is larger than the other and or the abdomen seems to be concave (caved in).

Importantly, an umbilical hernia must be distinguished from a paraumbilical hernia, which occurs in adults and involves a defect in the midline near to the umbilicus, and from omphalocele.

The syndrome has five characteristic findings:

- Omphalocele

- Anterior diaphragmatic hernia

- Sternal cleft with or without ectopia cordis

- Diaphragmatic pericardium defects (no diaphragmatic pericardium)

- Intracardiac defect: ventricular septal defect, diverticulum of the left ventricle, Tetralogy of Fallot

Anomalies between the diverticulum and umbilicus may include the presence of fibrous cord, cyst, fistula or sinus, leading to:

- Infection or excoriation of periumbilical skin, resulting in a discharging sinus

- Recurrent infection and healing of sinus

- Abscess formation in the abdominal wall

- Fibrous cord increases the risk of volvulus formation and internal herniation

Abdominal wall defects are a type of congenital defect that allows the stomach, the intestines, or other organs to protrude through an unusual opening that forms on the abdomen.

During the development of the fetus, many unexpected changes occur inside the womb. Specifically the stomach, intestines, or other organs begin to develop outside the fetus’ abdomen through the abnormal hole in the abdomen and, as development progresses, the abdominal wall eventually encloses these organs. In some cases of defect either the umbilical opening is too oversized or has developed improperly which allows the organs to remain outside or to squeeze through the abdominal wall.

There are two main types of abdominal wall defects that result due to the changes during development. They are omphalocele and gastroschisis. Gastroschisis develops when the abdominal wall does not completely close, and the organs are present outside of the infant’s body. Omphalocele occurs when some of the organs protrude through the muscles of the abdomen in the area surrounding the umbilical cord. Omphalocele can be either minor, with only some of the organs exposed, or severe, with most, if not all of the abdominal organs being exposed.

Complications may arise post-operation, including rejection of the mesh that is used to repair the hernia. In the event of a mesh rejection, the mesh will very likely need to be removed. Mesh rejection can be detected by obvious, sometimes localized swelling and pain around the mesh area. Continuous discharge from the scar is likely for a while after the mesh has been removed.

A surgically treated hernia can lead to complications such as inguinodynia, while an untreated hernia may be complicated by:

- Inflammation

- Obstruction of any lumen, such as bowel obstruction in intestinal hernias

- Strangulation

- Hydrocele of the hernial sac

- Hemorrhage

- Autoimmune problems

- Irreducibility or Incarceration, in which it cannot be reduced, or pushed back into place, at least not without very much external effort. In intestinal hernias, this also substantially increases the risk of bowel obstruction and strangulation.

By far the most common hernias develop in the abdomen, when a weakness in the abdominal wall evolves into a localized hole, or "defect", through which adipose tissue, or abdominal organs covered with peritoneum, may protrude. Another common hernia involves the spinal discs and causes "sciatica". A hiatus hernia occurs when the stomach protrudes into the "mediastinum" through the esophageal opening in the diaphragm.

Hernias may or may not present with either pain at the site, a visible or palpable lump, or in some cases more vague symptoms resulting from pressure on an organ which has become "stuck" in the hernia, sometimes leading to organ dysfunction. Fatty tissue usually enters a hernia first, but it may be followed or accompanied by an organ.

Hernias are caused by a disruption or opening in the fascia, or fibrous tissue, which forms the abdominal wall. It is possible for the bulge associated with a hernia to come and go, but the defect in the tissue will persist.

Symptoms and signs vary depending on the type of hernia. Symptoms may or may not be present in some inguinal hernias. In the case of reducible hernias, a bulge in the groin or in another abdominal area can often be seen and felt. When standing, such a bulge becomes more obvious. Besides the bulge, other symptoms include pain in the groin that may also include a heavy or dragging sensation, and in men, there is sometimes pain and swelling in the scrotum around the testicular area.

Irreducible abdominal hernias or incarcerated hernias may be painful, but their most relevant symptom is that they cannot return to the abdominal cavity when pushed in. They may be chronic, although painless, and can lead to strangulation (loss of blood supply), obstruction (kinking of intestine), or both. Strangulated hernias are always painful and pain is followed by tenderness. Nausea, vomiting, or fever may occur in these cases due to bowel obstruction. Also, the hernia bulge in this case may turn red, purple or dark and pink.

In the diagnosis of abdominal hernias, imaging is the principal means of detecting internal diaphragmatic and other nonpalpable or unsuspected hernias. Multidetector CT (MDCT) can show with precision the anatomic site of the hernia sac, the contents of the sac, and any complications. MDCT also offers clear detail of the abdominal wall allowing wall hernias to be identified accurately.

The majority of people with a Meckel's diverticulum are asymptomatic. An asymptomatic Meckel's diverticulum is called a "silent" Meckel's diverticulum. If symptoms do occur, they typically appear before the age of two years.

The most common presenting symptom is painless rectal bleeding such as melaena-like black offensive stools, followed by intestinal obstruction, volvulus and intussusception. Occasionally, Meckel's diverticulitis may present with all the features of acute appendicitis. Also, severe pain in the epigastric region is experienced by the patient along with bloating in the epigastric and umbilical regions. At times, the symptoms are so painful that they may cause sleepless nights with acute pain felt in the foregut region, specifically in the epigastric and umbilical regions.

In some cases, bleeding occurs without warning and may stop spontaneously. The symptoms can be extremely painful, often mistaken as just stomach pain resulting from not eating or constipation.

Rarely, a Meckel's diverticulum containing ectopic pancreatic tissue can present with abdominal pain and increased serum amylase levels, mimicking acute pancreatitis.

A Bochdalek hernia is one of two forms of a congenital diaphragmatic hernia, the other form being Morgagni hernia. A Bochdalek hernia is a congenital abnormality in which an opening exists in the infant's diaphragm, allowing normally intra-abdominal organs (particularly the stomach and intestines) to protrude into the thoracic cavity. In the majority of patients, the affected lung will be deformed, and the resulting lung compression can be life-threatening. Bochdalek hernias occur more commonly on the posterior left side (85%, versus right side 15%). This type of hernia was first studied and documented by the Czech Anatomist and Pathologist, Vincenz Alexander Bochdalek (1801–1883).

In the developed world, around 90% of cases are identified during normal ultrasound screens, usually in the second trimester.

Distinguished from other ventral body wall defects such as omphalocele, there is no overlying sac or peritoneum, and the defect is usually much smaller in gastroschisis.

A scaphoid abdomen (sucked inwards) may be the presenting symptom in a newborn.

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

Anal atresia or imperforate anus is seen in about 55 percent of patients with VACTERL association. These anomalies are usually noted at birth and often require surgery in the first days of life. Sometimes babies will require several surgeries to fully reconstruct the intestine and anal canal.

Vertebral anomalies, or defects of the spinal column, usually consist of small (hypoplastic) vertebrae or hemivertebra where only one half of the bone is formed. About 80 percent of patients with VACTERL association will have vertebral anomalies. In early life these rarely cause any difficulties, although the presence of these defects on a chest x-ray may alert the physician to other defects associated with VACTERL. Later in life these spinal column abnormalities may put the child at risk for developing scoliosis, or curvature of the spine.

There are no signs during pregnancy. About sixty percent of infants with gastroschisis are born prematurely. At birth, the baby will have a relatively small (<4 cm) hole in the abdominal wall, usually just to the right of the belly button. Some of the intestines are usually outside the body, passing through this opening. In rare circumstances, the liver and stomach may also come through the abdominal wall. After birth these organs are directly exposed to air.

Prune-belly triad consists of: Cryptorchidism, abdominal wall defects and genitourinary defects:

- A partial or complete lack of abdominal wall muscles. There may be wrinkly folds of skin covering the abdomen.

- Cryptorchidism (undescended testicles) in males

- Urinary tract abnormality such as unusually large ureters, distended bladder, accumulation and backflow of urine from the bladder to the ureters and the kidneys (vesicoureteral reflux)

Other Symptoms include:

- Frequent urinary tract infections due to the inability to properly expel urine.

- Ventricular septal defect

- Malrotation of the gut

- Club foot

- Later in life, a common symptom is post-ejaculatory discomfort. Most likely a bladder spasm, it lasts about two hours.

- Musculoskeletal abnormalities include pectus excavatum, scoliosis, and congenital joint dislocations including the hip. Diagnosis of prune belly syndrome necessitates a thorough orthopaedic evaluation because of the high prevalence of associated musculoskeletal abnormalities.

A diagnosis of pentalogy of Cantrell can often be made before birth (prenatally) sometimes using a fetal ultrasound. An ultrasound is an exam that uses high-frequency sound waves to produce an image of the developing fetus. A fetal ultrasound can detect some of the defects associated with pentalogy of Cantrell. An echocardiography is usually performed to evaluate the extent of the involvement of the heart. An echocardiography is an exam that uses sound waves to produce images of the heart

Magnetic resonance imaging (MRI) may also be performed to assess the degree of certain anomalies such as abdominal wall and pericardial defects. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues.

A Richter's hernia occurs when the antimesenteric wall of the intestine protrudes through a defect in the abdominal wall. This is discrete from other types of abdominal hernias in that only one intestinal wall protrudes through the defect, such that the lumen of the intestine is incompletely contained in the defect, while the rest remains in the peritoneal cavity. If such a herniation becomes necrotic and is subsequently reduced during hernia repair, perforation and peritonitis may result. A Richter's hernia can result in strangulation and necrosis in the absence of intestinal obstruction. It is a relatively rare but dangerous type of hernia.

Richter's hernia have also been noted in laparoscopic port-sites, usually when the fascia is not closed for ports larger than 10mm. A high index of suspicion is required in the post operative period as this sinister problem can closely mimic more benign complications like port-site haematomas.

Treatment is resection and anastomosis.

Mortality increases with delay in surgical intervention.

Usually associated with diaphragmatic hernia,

pulmonary hypoplasia,

imperforate anus,

micropenis,

bilateral cryptorchidism,

cerebral ventricular dilation,

camptodactyly,

agenesis of sacrum,

low-set ear.

- Fryns et al. (1979) reported 2 stillborn sisters with a multiple congenital anomaly syndrome characterized by coarse facies with cloudy corneae, diaphragmatic defects, absence of lung lobulation, and distal limb deformities. A sporadic case was reported by Goddeeris et al. (1980). Fitch (1988) claimed that she and her colleagues were the first to describe this disorder. In 1978 they reported a single infant, born of second-cousin parents, who had absent left hemidiaphragm, hydrocephalus, arhinencephaly, and cardiovascular anomalies.

- Lubinsky et al. (1983) reported a brother and sister with Fryns syndrome who both died in the neonatal period. Facial anomalies included broad nasal bridge, microretrognathia, abnormal helices, and cleft palate. Other features included distal digital hypoplasia, lung hypoplasia, and urogenital abnormalities, including shawl scrotum, uterus bicornis, and renal cysts. They were discordant for diaphragmatic hernia, cleft lip, and Dandy–Walker anomaly.

- Meinecke and Fryns (1985) reported an affected child; consanguinity of the parents supported recessive inheritance. They noted that a diaphragmatic defect had been described in 4 of the 5 reported cases and lung hypoplasia in all. Young et al. (1986) reported a sixth case. The male infant survived for 12 days. These authors listed corneal clouding, camptodactyly with hypoplastic nails, and abnormalities of the diaphragm as cardinal features.

- Samueloff et al. (1987) described a family in which all 4 children had Fryns syndrome and neonatal mortality. Features included hypoplastic lungs, cleft palate, retrognathia, micrognathism, small thorax, diaphragmatic hernia, distal limb hypoplasia, and early onset of polyhydramnios with premature delivery. Schwyzer et al. (1987) described an affected infant whose parents were second cousins.

- Moerman et al. (1988) described infant brother and sister with the syndrome of diaphragmatic hernia, abnormal face, and distal limb anomalies. Both died shortly after birth with severe respiratory distress. Ultrasonography demonstrated fetal hydrops, diaphragmatic hernia, and striking dilatation of the cerebral ventricles in both infants. Post-mortem examination showed Dandy–Walker malformation, ventricular septal defect, and renal cystic dysplasia.

- Cunniff et al. (1990) described affected brothers and 3 other cases, bringing the total reported cases of Fryns syndrome to 25. One of the affected brothers was still alive at the age of 24 months. Bilateral diaphragmatic hernias had been repaired on the first day of life. He required extracorporeal membrane oxygenation therapy for 5 days and oscillatory therapy for 3 months. Ventriculoperitoneal shunt was required because of slowly progressive hydrocephalus. Scoliosis was associated with extranumerary vertebral bodies and 13 ribs. Because of delayed gastric emptying, a gastrostomy tube was inserted. In addition, because of persistent chylothorax, he underwent decortication of the right lung and oversewing of the thoracic duct.

- Kershisnik et al. (1991) suggested that osteochondrodysplasia is a feature of Fryns syndrome.

- Willems et al. (1991) suggested that a diaphragmatic hernia is not a necessary feature of Fryns syndrome. They described a child with all the usual features except for diaphragmatic hernia; the diaphragm was reduced to a fibrous web with little muscular component. Bartsch et al. (1995) presented 2 unrelated cases with a typical picture of Fryns syndrome but without diaphragmatic hernia. One of these patients was alive at the age of 14 months, but was severely retarded. Bamforth et al. (1987) and Hanssen et al. (1992) also described patients with this syndrome who survived the neonatal period. In the report of Hanssen et al. (1992), 2 older sibs had died in utero. The reports suggested that survival beyond the neonatal period is possible when the diaphragmatic defect and lung hypoplasia are not present. However, mental retardation has been present in all surviving patients.

- Vargas et al. (2000) reported a pair of monozygotic twins with Fryns syndrome discordant for severity of diaphragmatic defect. Both twins had macrocephaly, coarse facial appearance, hypoplasia of distal phalanges, and an extra pair of ribs. Twin A lacked an apparent diaphragmatic defect, and at 1 year of age had mild developmental delay. Twin B had a left congenital diaphragmatic hernia and died neonatally. The authors suggested that absence of diaphragmatic defect in Fryns syndrome may represent a subpopulation of more mildly affected patients.

- Aymé, "et al." (1989) described 8 cases of Fryns syndrome in France. The most frequent anomalies were diaphragmatic defects, lung hypoplasia, cleft lip and palate, cardiac defects, including septal defects and aortic arch anomalies, renal cysts, urinary tract malformations, and distal limb hypoplasia. Most patients also had hypoplastic external genitalia and anomalies of internal genitalia, including bifid or hypoplastic uterus or immature testes. The digestive tract was also often abnormal; duodenal atresia, pyloric hyperplasia, malrotation and common mesentery were present in about half of the patients. When the brain was examined, more than half were found to have Dandy–Walker anomaly and/or agenesis of the corpus callosum. A few patients demonstrated cloudy cornea. Histologically, 2 of 3 patients showed retinal dysplasia with rosettes and gliosis of the retina, thickness of the posterior capsule of the lens, and irregularities of Bowman membrane.

- Alessandri et al. (2005) reported a newborn from the Comores Islands with clinical features of Fryns syndrome without diaphragmatic hernia. They noted that diaphragmatic hernia is found in more than 80% of cases and that at least 13 other cases had been reported with an intact diaphragm.

- In a postneonatal survivor of Fryns syndrome, Riela et al. (1995) described myoclonus appearing shortly after birth, which was well controlled on valproate. Progressive cerebral and brainstem atrophy was noted on serial MRIs made at 3 months and after 6 months of age.

- Van Hove et al. (1995) described a boy with Fryns syndrome who survived to age 3 years and reviewed the outcome of other reported survivors (approximately 14% of reported cases). Survivors tended to have less frequent diaphragmatic hernia, milder lung hypoplasia, absence of complex cardiac malformation, and severe neurologic impairment. Their patient had malformations of gyration and sulcation, particularly around the central sulcus, and hypoplastic optic tracts beyond the optic chiasm associated with profound mental retardation.

- Fryns and Moerman (1998) reported a second-trimester male fetus with Fryns syndrome and midline scalp defects. The authors stated that the finding of a scalp defect in Fryns syndrome confirms that it is a true malformation syndrome with major involvement of the midline structures.

- Ramsing et al. (2000) described 2 sibships with 4 fetuses and 1 preterm baby of 31 weeks' gestation affected by a multiple congenital disorder suggestive of Fryns syndrome. In addition to the diaphragmatic defects and distal limb anomalies, they presented with fetal hydrops, cystic hygroma, and multiple pterygias. Two affected fetuses in 1 family showed severe craniofacial abnormalities with bilateral cleft lip and palate and cardiovascular malformation.

- Arnold et al. (2003) reported a male fetus with Fryns syndrome and additional abnormalities, in particular, multiple midline developmental defects including gastroschisis, central nervous system defects with left arrhinencephaly and cerebellar hypoplasia, midline cleft of the upper lip, alveolar ridge, and maxillary bone, and cleft nose with bilateral choanal atresia.

- Pierson et al. (2004) reviewed 77 reported patients with Fryns syndrome and summarized the abnormal eye findings identified in 12 of them. They also described 3 new patients with Fryns syndrome, 1 of whom demonstrated unilateral microphthalmia and cloudy cornea.

- Slavotinek et al. (2005) noted that Fryns syndrome may be the most common autosomal recessive syndrome in which congenital diaphragmatic hernia (see DIH2, 222400) is a cardinal feature. The autosomal recessive inheritance in Fryns syndrome contrasts with the sporadic inheritance for most patients with DIH.

The prognosis of ectopia cordis depends on classification according to three factors:

1. Location of the defect

- Cervical

- Thoracic

- Thoracoabdominal

- Abdominal

2. Extent of the cardiac displacement

3. Presence or absence of intracardiac defects

Some studies have suggested a better prognosis with surgery in cases of thoracoabdominal ectopia cordis or less severe pentalogy of Cantrell. In general, the prognosis for ectopia cordis is poor—most cases result in death shortly after birth due to infection, hypoxemia, or cardiac failure.

Typically, Hirschsprung's disease is diagnosed shortly after birth, although it may develop well into adulthood, because of the presence of megacolon, or because the baby fails to pass the first stool (meconium) within 48 hours of delivery. Normally, 90% of babies pass their first meconium within 24 hours, and 99% within 48 hours. Other symptoms include green or brown vomit, explosive stools after a doctor inserts a finger into the rectum, swelling of the abdomen, excessive gas, and bloody diarrhea.

Some cases are diagnosed later, into childhood, but usually before age 10. The child may experience fecal retention, constipation, or abdominal distention.