Congenital disorder

A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life (neonatal disease), regardless of causation. Of these diseases, those characterized by structural deformities are termed "congenital anomalies" and involve defects in or damage to a developing fetus.

A congenital disorder may be the result of genetic abnormalities, the intrauterine (uterus) environment, errors of morphogenesis, infection, epigenetic modifications, or a chromosomal abnormality. The outcome of the disorder will depend on complex interactions between the pre-natal deficit and the post-natal environment. Animal studies indicate that the mother's (and possibly but less probably the father's) diet, vitamin intake, and glucose levels prior to ovulation and conception have long-term effects on fetal growth and adolescent and adult disease. Congenital disorders vary widely in causation and abnormalities. Any substance that causes birth defects is known as a teratogen. Some disorders can be detected before birth through prenatal diagnosis (screening).

The term "congenital" disorder does not necessarily refer to a genetic disorder despite the similarity of the words.

Some congenital conditions are idiopathic, and sometimes the word "congenital" is used synonymously with "idiopathic"; but careful usage prefers to reserve the word "congenital" for conditions to which the literal sense of the word applies (that is, those whose pathophysiology has existed since the neonatal period).


Much of the language used for describing congenital conditions predates genomic mapping, and structural conditions are often considered separately from other congenital conditions. It is now known that many metabolic conditions may have subtle structural expression, and structural conditions often have genetic links. Still, congenital conditions are often classified in a structural basis, organized when possible by primary organ system affected.

Primarily structural

Several terms are used to describe congenital abnormalities. (Some of these are also used to describe noncongenital conditions, and more than one term may apply in an individual condition.)


  • A congenital physical anomaly is an abnormality of the structure of a body part. An anomaly may or may not be perceived as a problem condition. Many, if not most, people have one or more minor physical anomalies if examined carefully. Examples of minor anomalies can include curvature of the 5th finger (clinodactyly), a third nipple, tiny indentations of the skin near the ears (preauricular pits), shortness of the 4th metacarpal or metatarsal bones, or dimples over the lower spine (sacral dimples). Some minor anomalies may be clues to more significant internal abnormalities.
  • Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical anomaly which is recognizable at birth, and which is significant enough to be considered a problem. According to the CDC, most birth defects are believed to be caused by a complex mix of factors including genetics, environment, and behaviors, though many birth defects have no known cause. An example of a birth defect is cleft palate.
  • A congenital malformation is a congenital physical anomaly that is deleterious, i.e. a structural defect perceived as a problem. A typical combination of malformations affecting more than one body part is referred to as a malformation syndrome.
  • Some conditions are due to abnormal tissue development:
    • A malformation is associated with a disorder of tissue development. Malformations often occur in the first trimester.
    • A dysplasia is a disorder at the organ level that is due to problems with tissue development.
  • It is also possible for conditions to arise after tissue is formed:
    • A deformation is a condition arising from mechanical stress to normal tissue. Deformations often occur in the second or third trimester, and can be due to oligohydramnios.
  • A disruption involves breakdown of normal tissues.
  • When multiple effects occur in a specified order, it is known as a sequence. When the order is not known, it is a syndrome.

Examples of primarily structural congenital disorders

A limb anomaly is called a dysmelia. These include all forms of limbs anomalies, such as amelia, ectrodactyly, phocomelia, polymelia, polydactyly, syndactyly, polysyndactyly, oligodactyly, brachydactyly, achondroplasia, congenital aplasia or hypoplasia, amniotic band syndrome, and cleidocranial dysostosis.

Congenital anomalies of the heart include patent ductus arteriosus, atrial septal defect, ventricular septal defect, and tetralogy of fallot. Helen Taussig has been a major force in research on congenital anomalies of the heart.

Congenital anomalies of the nervous system include neural tube defects such as spina bifida, meningocele, meningomyelocele, encephalocele and anencephaly. Other congenital anomalies of the nervous system include the Arnold-Chiari malformation, the Dandy-Walker malformation, hydrocephalus, microencephaly, megencephaly, lissencephaly, polymicrogyria, holoprosencephaly, and agenesis of the corpus callosum.

Congenital anomalies of the gastrointestinal system include numerous forms of stenosis and atresia, and perforation, such as gastroschisis..

Congenital anomalies of the kidney and urinary tract (CAKUT) include renal parenchyma, kidneys, and urinary collecting system.

Defects can be bilateral or unilateral, and different defects often coexist in an individual child

Primarily metabolic

A congenital metabolic disease is also referred to as an inborn error of metabolism. Most of these are single gene defects, usually heritable. Many affect the structure of body parts but some simply affect the function.


Other well defined genetic conditions may affect the production of hormones, receptors, structural proteins, and ion channels.


Fetal alcohol exposure

The mother's consumption of alcohol during pregnancy can cause a continuum of various permanent birth defects : cranofacial abnormalities, brain damage, intellectual disability, heart disease, kidney abnormality, skeletal anomalies, ocular abnormalities.

The prevalence of children affected is estimated at least 1 percent in U.S. as well in Canada.

Toxic substances

Substances whose toxicity can cause congenital disorders are called "teratogens", and include certain pharmaceutical and recreational drugs in pregnancy as well as many environmental toxins in pregnancy.

A review published in 2010 identified 6 main teratogenic mechanisms associated with medication use: folate antagonism, neural crest cell disruption, endocrine disruption, oxidative stress, vascular disruption and specific receptor- or enzyme-mediated teratogenesis.

It is estimated that 10% of all birth defects are caused by prenatal exposure to a teratogenic agent. These exposures include, but are not limited to, medication or drug exposures, maternal infections and diseases, and environmental and occupational exposures. Teratogen-caused birth defects are potentially preventable. Studies have shown that nearly 50% of pregnant women have been exposed to at least one medication during gestation. An additional study found that of 200 individuals referred for genetic counseling for a teratogenic exposure, 52% were exposed to more than one potential teratogen.

Isotretinoin (13-cis-retinoic-acid; brand name Roaccutane), which is often used to treat severe acne, is such a strong teratogen that just a single dose taken by a pregnant woman may result in serious birth defects. Because of this effect, most countries have systems in place to ensure that it is not given to pregnant women, and that the patient is aware of how important it is to prevent pregnancy during and at least one month after treatment. Medical guidelines also suggest that pregnant women should limit vitamin A intake to about 700 μg/day, as it has teratogenic potential when consumed in excess.


A vertically transmitted infection is an infection caused by bacteria, viruses or, in rare cases, parasites transmitted directly from the mother to an embryo, fetus or baby during pregnancy or childbirth. It can occur when the mother gets an infection as an intercurrent disease in pregnancy.

Lack of nutrients

For example, a lack of folic acid in the diet of a mother can cause cellular neural tube deformities that result in spina bifida.

Physical restraint

External physical shocks or constrainment due to growth in a restricted space, may result in unintended deformation or separation of cellular structures resulting in an abnormal final shape or damaged structures unable to function as expected. An example is Potter syndrome due to oligohydramnios.

For multicellular organisms that develop in a womb, the physical interference or presence of other similarly developing organisms such as twins can result in the two cellular masses being integrated into a larger whole, with the combined cells attempting to continue to develop in a matter that satisfies the intended growth patterns of both cell masses. The two cellular masses can compete with each other, and may either duplicate or merge various structures. This results in conditions such as conjoined twins, and the resulting merged organism may die at birth when it must leave the life-sustaining environment of the womb and must attempt to sustain its biological processes independently.

Genetic causes

Genetic causes of congenital anomalies include inheritance of abnormal genes from the parents, as well as new mutations in one of the germ cells that gave rise to the fetus.

Genetic disorders or diseases are all congenital, though they may not be expressed or recognized until later in life. Genetic diseases may be divided into single-gene defects, multiple-gene disorders, or chromosomal defects. Single-gene defects may arise from abnormalities of both copies of an autosomal gene (a recessive disorder) or of only one of the two copies (a dominant disorder). Some conditions result from deletions or abnormalities of a few genes located contiguously on a chromosome. Chromosomal disorders involve the loss or duplication of larger portions of a chromosome (or an entire chromosome) containing hundreds of genes. Large chromosomal abnormalities always produce effects on many different body parts and organ systems.

Unknown or multifactorial

Although significant progress has been made in identifying the etiology of some birth defects, approximately 65% have no known or identifiable cause. These are referred to as sporadic, a term that implies an unknown cause, random occurrence regardless of maternal living conditions, and a low recurrence risk for future children. For 20-25% of anomalies there seems to be a "multifactorial" cause, meaning a complex interaction of multiple minor genetic anomalies with environmental risk factors. Another 10-13% of anomalies have a purely environmental cause (e.g. infections, illness, or drug abuse in the mother). Only 12-25% of anomalies have a purely genetic cause. Of these, the majority are chromosomal anomalies.

Role of radiation

For the survivors of the atomic bombing of Hiroshima and Nagasaki, who are known as the Hibakusha, no statistically demonstrable increase of birth defects/congenital malformations was found among their later conceived children, or found in the later conceived children of cancer survivors who had previously received radiotherapy. The surviving women of Hiroshima and Nagasaki who were able to conceive, though exposed to substantial amounts of radiation, went on and had children with no higher incidence of abnormalities/birth defects than in the Japanese population as a whole.


Congenital anomalies resulted in about 510,000 deaths globally in 2010.

Many studies have found that the frequency of occurrence of certain congenital malformations depends on the sex of the child (table). For example, pyloric stenosis occurs more often in males while congenital hip dislocation is four to five times more likely to occur in females. Among children with one kidney, there are approximately twice as many males, whereas among children with three kidneys there are approximately 2.5 times more females. The same pattern is observed among infants with excessive number of ribs, vertebrae, teeth and other organs which in a process of evolution have undergone reductionâ€"among them there are more females. Contrarily, among the infants with their scarcity, there are more males. Anencephaly is shown to occur approximately twice as frequently in females. The number of boys born with 6 fingers is two times higher than the number of girls. Now various techniques are available to detect congenital anomalies in fetus before birth.

About 3% of newborns have a "major physical anomaly", meaning a physical anomaly that has cosmetic or functional significance. Physical congenital abnormalities are the leading cause of infant mortality in the United States, accounting for more than 20% of all infant deaths. Seven to ten percent of all children will require extensive medical care to diagnose or treat a birth defect.

  • Data obtained on opposite-sex twins. ** â€" Data were obtained in the period 1983-1994.

P. M. Rajewski and A. L. Sherman (1976) have analyzed the frequency of congenital anomalies in relation to the system of the organism. Prevalence of men was recorded for the anomalies of phylogenetically younger organs and systems.

In respect of an etiology, sexual distinctions can be divided on appearing before and after differentiation of male's gonads in during embryonic development, which begins from eighteenth week. The testosterone level in male embryos thus raises considerably. The subsequent hormonal and physiological distinctions of male and female embryos can explain some sexual differences in frequency of congenital defects. It is difficult to explain the observed differences in the frequency of birth defects between the sexes by the details of the reproductive functions or the influence of environmental and social factors.

US incidence

The CDC and National Birth Defect Project studied the incidence of birth defects in the US. Key findings include:

  • Down syndrome was the most common condition with an estimated prevalence of 14.47 per 10,000 live births, implying about 6,000 diagnoses each year.
  • About 7,000 babies are born with a cleft palate, cleft lip or both.


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