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

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.

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.

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.

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).

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 keratin disease (or keratinopathy) is a genetic disorder of one of the keratin genes.

An example is monilethrix.

The first to be identified was epidermolysis bullosa simplex.

Bart syndrome is a genetic disorder characterized by the association of congenital localized absence of skin, epidermolysis bullosa, lesions of the mouth mucosa, and dystrophic nails.

The disease is inherited by autosomal dominant transmission with complete penetrance but variable expression. This means that children of an affected parent that carries the gene have a 50% chance of developing the disorder, although the extent to which they are affected is variable.

Bart syndrome is caused by ultrastructural abnormalities in the anchoring fibrils. Genetic linkage of the inheritance of the disease points to the region of chromosome 3 near the collagen, type VII, alpha 1 gene (COL7A1).

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

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.

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.

One of the biggest risks factors faced by the affected foals is susceptibility to secondary infection. Within three to eight days after birth, the foal may die from infection or is euthanized for welfare reasons.

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.

This is rare and is usually due to mutations in the R-spondin 4 (RSPO4) gene which is located on the short arm of chromosome 20 (20p13). Clinically it is manifest by the absence (anonychia) or hypoplasia (hyponuchia) of finger- and/or toenails.

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).

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.

According to the National Human Genome Research Institute, Poland syndrome affects males three times as often as females and affects the right side of the body twice as often as the left. The incidence is estimated to range from one in 7,000 to one in 100,000 live births.

Currently, there are no treatments available for JEB. However, the disorder can be prevented through good breeding management. Horses that are carriers of JEB should not be incorporated into breeding programs. Although, if breeders are insistent on breeding a carrier, precautions need to be taken to ensure that the other mate is not a carrier as well. Genetic testing for the disorder is highly recommended among breeding programs for the Draft horse and Saddlebred breeds to determine their carrier status.

Arterial tortuosity syndrome exhibits autosomal recessive inheritance, and the responsible gene is located at chromosome 20q13. The gene associated with arterial tortuosity syndrome SLC2A10 and has no less than 23 mutations in those found to have the aforementioned condition.

Maydl's hernia (Hernia-in-W) is a rare type of hernia and may be lethal if undiagnosed. The hernial sac contains two loops of bowel with another loop of bowel being intra-abdominal. A loop of bowel in the form of 'W lies in the hernial sac and the centre portion of the 'W loop may become strangulated, either alone or in combination with the bowel in the hernial sac. It is more often seen in men, and predominantly on the right side. Maydl's hernia should be suspected in patients with large incarcerated herniae and in patients with evidence of intra-abdominal strangulation or peritonitis. Postural or manual reduction of the hernia is contra-indicated as it may result in non-viable bowel being missed.

It is named after Czech surgeon Karel Maydl.

The mechanism of this condition is apparently controlled(or due to) the SLC2A10 gene. The molecular genetic pathogenesis finds that SLC2A10 encodes GLUT10(in nuclear membrane, or the endoplasmic reticulum, the later of which GLUT10 transports DHA into).Clinically speaking, according to one review, the condition of "tortuosity" is seen more with the advance of age.

The cause of Poland syndrome is unknown. However, an interruption of the embryonic blood supply to the arteries that lie under the collarbone (subclavian arteries) at about the 46th day of embryonic development is the prevailing theory.

The subclavian arteries normally supply blood to embryonic tissues that give rise to the chest wall and hand. Variations in the site and extent of the disruption may explain the range of signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ectodermal ridge, which helps direct early limb development, may also be involved in this disorder.

An epigastric hernia is a type of hernia which may develop in the epigastrium (upper, central part of the abdomen). Epigastric hernias usually appear in adults.

Unlike the benign diastasis recti, epigastric hernia may trap fat and other tissues inside the opening of the hernia, causing pain and tissue damage.

Crucial in the decision to breed would be the primary cause of FCKS in the litter, which may or may not be genetic. Some recovered FCKS adults have produced FCKS offspring in their turn (or lines that consistently produce flat kittens), and breeding from them is therefore inadvisable. However, repeat matings in which FCKS has appeared does not always result in further FCKS kittens. Queens and studs who consistently throw complete litters of kittens with the condition are generally neutered since a genetically linked cause for the condition can be introduced into lines that do not produce it by breeding with lines in which it is common. Isolated instances of single flat kittens in an otherwise healthy litter are unlikely to have a genetic component in the condition, and neutering of parents of such kittens is not usually necessary in pedigree breeding, especially since this may have detrimental effects on the gene pool.

If the cause of flattening is colic related to over-production of milk then this would not be cause for neutering. The only way to determine if the cause is digestive would be if the condition was alleviated in all cases by pinching the phrenic nerve and/or use of liquid paraffin to relieve colic resulting in improvement in the condition.

Line-breeding or inbreeding is highly inadvisable in lines where FCKS has appeared, and the practice may cause the condition to appear in lines where it has not previously been recorded.