An omphalocele is often detected through AFP screening or a detailed fetal ultrasound. Genetic counseling and genetic testing such as amniocentesis are usually offered during the pregnancy.

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.

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.

Due to the rarity and rapid postpartum mortality of ectopia cordis, limited treatment options have been developed. Only one successful surgery has been performed as of now, and the mortality rate remains high.

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.

Amniotic band syndrome is considered an accidental event and it does not appear to be genetic or hereditary, so the likelihood of it occurring in another pregnancy is remote. The cause of amnion tearing is unknown and as such there are no known preventative measures.

Amniotic band syndrome is often difficult to detect before birth as the individual strands are small and hard to see on ultrasound. Often the bands are detected indirectly because of the constrictions and swelling upon limbs, digits, etc. Misdiagnosis is also common, so if there are any signs of amniotic bands, further detailed ultrasound tests should be done to assess the severity. 3D ultrasound and MRI can be used for more detailed and accurate diagnosis of bands and the resulting damage/danger to the fetus.

International Omphalocele Awareness Day is celebrated annually on January 31, as part of Birth Defect Awareness Month. Several U.S. states have passed resolutions to officially recognize the date.

Pectus excavatum requires no corrective procedures in mild cases. Treatment of severe cases can involve either invasive or non-invasive techniques or a combination of both. Before an operation proceeds several tests are usually to be performed. These include, but are not limited to, a CT scan, pulmonary function tests, and cardiology exams (such as auscultation and ECGs). After a CT scan is taken, the Haller index is measured. The patient's Haller is calculated by obtaining the ratio of the transverse diameter (the horizontal distance of the inside of the ribcage) and the anteroposterior diameter (the shortest distance between the vertebrae and sternum). A Haller Index of greater than 3.25 is generally considered severe, while normal chest has an index of 2.5. The cardiopulmonary tests are used to determine the lung capacity and to check for heart murmurs.

Pectus excavatum is initially suspected from visual examination of the anterior chest. Auscultation of the chest can reveal displaced heart beat and valve prolapse. There can be a heart murmur occurring during systole caused by proximity between the sternum and the pulmonary artery.

Lung sounds are usually clear yet diminished due to decreased base lung capacity.

Many scales have been developed to determine the degree of deformity in the chest wall. Most of these are variants on the distance between the sternum and the spine. One such index is the "Backer ratio" which grades severity of deformity based on the ratio between the diameter of the vertebral body nearest to xiphosternal junction and the distance between the xiphosternal junction and the nearest vertebral body. More recently the "Haller index" has been used based on CT scan measurements. An index over 3.25 is often defined as severe. The Haller index is the ratio between the horizontal distance of the inside of the ribcage and the shortest distance between the vertebrae and sternum.

Chest x-rays are also useful in the diagnosis. The chest x-ray in pectus excavatum can show an opacity in the right lung area that can be mistaken for an infiltrate (such as that seen with pneumonia). Some studies also suggest that the Haller index can be calculated based on chest x-ray as opposed to CT scanning in individuals who have no limitation in their function.

Pectus excavatum is differentiated from other disorders by a series of elimination of signs and symptoms. Pectus carinatum is excluded by the simple observation of a collapsing of the sternum rather than a protrusion. Kyphoscoliosis is excluded by diagnostic imaging of the spine, where in pectus excavatum the spine usually appears normal in structure.

There is no consensus on what degree of angulation justifies a diagnosis, an incline between 15° and 30° is typical. A similar-sounding term, camptodactyly, is a fixed flexion deformity of a digit.

Due to a developmental arrest there is an abnormal alignment of the joint surfaces at either interphalangeal joint causing angulation in the plane of the palm. The finger may be slightly bent or have a very prominent bend.

Sternal clefts are rare congenital malformations that result from defective embryologic fusion of paired mesodermal bands in the ventral midline. They may be associated with other midline defects (as in pentalogy of Cantrell). It may also occur in isolation. Sternal cleft is treated by surgery in early life to avoid fixation leading to immobility.

Radiographic analysis by performing a computed axial tomographic scan is the gold standard for diagnosing craniosynostosis.

Plain radiography of the skull may be sufficient for diagnosing a single suture craniosynostosis and should therefore be performed, but the diagnostic value is outweighed by that of the CT-scan. Not only can the sutures be identified more accurately, thus objectively demonstrating a fused suture, but also evaluation of the brain for structural abnormalities and excluding other causes of asymmetric growth are possible at the same time. In addition to this, CT-scanning can visualize the extent of skull deformity, thereby enabling the surgeon to start planning surgical reconstruction.

A musculoskeletal abnormality is a disorder of the musculoskeletal system present at birth.

They can be due to deformity or malformation.

An example is Klippel-Feil syndrome.

Although present at birth, some only become obvious postnatally.

Diagnosis of a trigger thumb is solely made by these clinical observations and further classified into four stages:

Not much research has been done on the epidemiology of congenital trigger thumbs. There are a few reports on the incidence in their respective studies. The most recent data comes from a Japanese study by Kukichi and Ogino where they found an incidence 3.3 trigger thumbs per 1,000 live births in 1 year old children.

The treatment of pansynostosis comprises the expansion of the anterior cranial vault, as well as the posterior cranial vault. This can be accomplished in one procedure, but is generally performed in two.

Dipygus is caused by genetic, environmental, or teratogenic factors. It occurs early in intrauterine life.

Dipygus is a severe congenital deformity where the body axis forks left and right partway along the torso with the posterior end (pelvis and legs) duplicated. Myrtle Corbin was a dipygus; she married and had five children. In human cases, the inner two of the four hindquarters develop much smaller than normal. This is a type of "teras catadidymum" ("monster twinned below").

Another sort of deformity with extra legs can happen from a degenerated conjoined twin, as may have happened with Frank Lentini with his third leg.

Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone of the extremities." It is the shortening of the fibula at birth, or the complete lack thereof. In humans, the disorder can be noted by ultrasound in utero to prepare for amputation after birth or complex bone lengthening surgery. The amputation usually takes place at six months with removal of portions of the legs to prepare them for prosthetic use. The other treatments which include repeated corrective osteotomies and leg-lengthening surgery (Ilizarov apparatus) are costly and associated with residual deformity.

It is a feature of Turner syndrome (only found in girls) and Noonan syndrome, as well as the rarer Klippel-Feil syndrome, or Diamond-Blackfan Anemia

The cause of fibular hemimelia is unclear. Purportedly, there have been some incidents of genetic distribution in a family; however, this does not account for all cases. Maternal viral infections, embryonic trauma, teratogenic environmental exposures or vascular dysgenesis (failure of the embryo to form a satisfactory blood supply) between four and seven weeks gestation are considered possible causes.

In an experimental mouse model, change in the expression of a homeobox gene led to similar, but bilateral, fibular defects.

On babies, webbed neck may look like loose folds of skin on the neck. As the child grows, the skin may stretch out to look like there is little or no neck.

Treatment for a nasal septal abscess is similar to that of other bacterial infections. Aggressive broad spectrum antibiotics may be used after the infected area has been drained of fluids.