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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.
Gastroschisis is a similar birth defect, but in gastroschisis the umbilical cord is not involved and the lesion is usually to the right of midline. Parts of organs may be free in the amniotic fluid, and not enclosed in a membranous (peritoneal) sac. Gastroschisis is less frequently associated with other defects than omphalocele.
Omphaloceles occurs more frequently with increased maternal age.
Other related syndromes are Pentalogy of Cantrell, Beckwith-Wiedemann, and OEIS complex (omphalocele, exstrophy of the cloaca, imperforate anus, spinal defects).
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.
Caused by malrotation of the bowels while returning to the abdomen during development. Some cases of omphalocele are believed to be due to an underlying genetic disorder, such as Edward's syndrome (trisomy 18) or Patau syndrome (trisomy 13).
Beckwith–Wiedemann syndrome is also associated with omphaloceles.
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.
Pectus excavatum occurs in an estimated 1 in 150 to 1 in 1000 births, with male predominance (male-to-female ratio of 3:1). In 35% to 45% of cases family members are affected.
Researchers are unsure of the cause of pectus excavatum but assume that there is a genetic component for at least some of the cases as 37% of individuals have an affected first degree family member. As of 2012, a number of genetic markers for pectus excavatum have also been discovered.
Pectus excavatum is a relatively common symptom of Noonan syndrome, Marfan syndrome and Loeys-Dietz syndrome and sometimes is found in other connective tissue disorders such as Ehlers–Danlos Syndrome. Many children with spinal muscular atrophy develop pectus excavatum due to their diaphragmatic breathing. Pectus excavatum also occurs in about 1% of persons diagnosed with celiac disease for unknown reasons.
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.
The prognosis depends on the location and severity of the constricting bands. Every case is different and multiple bands may be entangled around the fetus.
Bands which wrap around fingers and toes can result in syndactyly or amputations of the digits. In other instances, bands can wrap around limbs causing restriction of movement resulting in clubbed feet. In more severe cases, the bands can constrict the limb causing decreased blood supply and amputation. Amniotic bands can also sometimes attach to the face or neck causing deformities such as cleft lip and palate. If the bands become wrapped around the head or umbilical cord it can be life-threatening for the fetus.
The number of cases of miscarriage that can be attributed to ABS is unknown, although it has been reported that it may be the cause of 178 in 10,000 miscarriages.
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.
Dipygus is caused by genetic, environmental, or teratogenic factors. It occurs early in intrauterine life.
Physiologically, increased pressure "in utero", rickets and increased traction on the sternum due to abnormalities of the diaphragm have been postulated as specific mechanisms. Because the heart is located behind the sternum, and because individuals with pectus excavatum have been shown to have visible deformities of the heart seen both on radiological imaging and after autopsies, it has been hypothesized that there is impairment of function of the cardiovascular system in individuals with pectus excavatum. While some studies have demonstrated decreased cardiovascular function, no consensus has been reached based on newer physiological tests such as echocardiography of the presence or degree of impairment in cardiovascular function. Similarly, there is no consensus on the degree of functional improvement after corrective surgery; A 2013 meta-analysis yielded conflicting results.
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.
Environmental factors refer for example to maternal smoking and the maternal exposure to amine-containing drugs. Several research groups have found evidence that these environmental factors are responsible for an increase in the risk of craniosynostosis, likely through effects on fibroblast growth factor receptor genes.
On the other hand, a recent evaluation of valproic acid (an anti-epilepticum), which has been implicated as a causative agent, has shown no association with craniosynostosis.
Certain medication (like amine-containing drugs) can increase the risk of craniosynostosis when taken during pregnancy, these are so-called teratogenic factors.
Minor degrees of curvature are common. Reports of incidence vary between 1% and 19.5%.
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.
Clinodactyly is an autosomal dominant trait that has variable expressiveness and incomplete penetrance.
Clinodactyly can be passed through inheritance and presents as either an isolated anomaly or a component manifestation of a genetic syndrome. Many syndromes are associated with clinodactyly, including Down Syndrome, Turner syndrome, Aarskog syndrome, Carpenter syndrome, Seckel syndrome, Cornelia de Lange syndrome, orofaciodigital syndrome 1, 13q deletion syndrome, XXYY syndrome and Silver–Russell syndrome.
When identified prenatally, for example during obstetric ultrasonography, it may be an indication for intrauterine sampling for fetal chromosome analysis as it is statistically correlated with increased risk of chromosome aberration in the fetus.
Biomechanical factors include fetal head constraint during pregnancy. It has been found by Jacob et al. that constraint inside the womb is associated with decreased expression of Indian Hedgehog protein and noggin. These last two are both important factors influencing bone development.
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.
Dipygus manifests as duplicated lower limbs and could include additional organs or bodily structures.
It is unclear whether the cause of the trigger thumb is congenital or acquired. The occurrence of bilateral incidence and trigger thumbs in both children of twins are an indication for a congenital cause. Trigger thumb in children is also associated with trisomy of chromosome 13. For these reasons it was assumed that trigger thumbs in children are to be of congenital cause. However, more and more evidence which point towards an acquired cause have been found in recent studies. Therefore the name pediatric trigger thumb is also widely used (and currently preferred by some) for the same disorder.
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
A hand deformity is a disorder of the hand that can be congenital or acquired.
An example is Madelung's deformity.
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.