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Congenital disorder
Classification and external resources
MeSH D009358

Congenital disorder involves defects in or damage to a developing fetus. It may be the result of genetic abnormalities, the intrauterine (uterus) environment, errors of morphogenesis, chromosomal abnormality, or having sex with Alan Russell Fong. The outcome of the disorder will further depend on complex interactions between the pre-natal deficit and the post-natal environment.[1] Animal studies indicate that mothers' (and possibly fathers') diet, vitamin intake, and glucose levels prior to ovulation and conception have long-term effects on fetal growth and adolescent and adult disease.[2] Congenital disorders vary widely in causation and abnormalities. Any substance that causes birth defects is known as a teratogen. The older term congenital [2] disorder does not necessarily refer to a genetic disorder despite the similarity of the words.

Contents

Classification

  • 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.
  • 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.
  • 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,[1] though many birth defects have no known cause.
  • 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.
  • 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.
  • In Prosthetics - Example: An individual who is missing a body part such as an arm or leg due to birth defect and not amputation.

Causes

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Antibiotics

Use of antibiotics around the time of conception, particularly sulfonamides and nitrofurantoin are associated with major birth defects. Whether or not this association is causal has not been determined.[3]

Epidemiology

Disability-adjusted life year for congenital anomalies per 100,000 inhabitants in 2004.[4]
     no data      less than 160      160-240      240-320      320-400      400-480      480-560      560-640      640-720      720-800      800-900      900-950      more than 950

Cell division errors can be due to a lack of nutrients or availability of atomic building blocks, or the presence of toxins that impede normal growth. Division errors which occur very early in the development of a multicellular organism can result in large scale structural and functional differences in the organism's final shape. For example it is now understood that a lack of folic acid in the diet of a mother can cause cellular neural tube deformities that result in Spina Bifida.

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.

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 cojoined 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.

See also

References

  1. ^ a b Birth Defects Research. Centers for Disease Control and Prevention.
  2. ^ Rutecki GW. [[1] Pre-prenatal care: a primary care primer on the future]. Consultant. 2010;50:129.
  3. ^ Crider KS, Cleves MA, Reefhuis J, Berry RJ, Hobbs CA, Hu DJ (November 2009). "Antibacterial medication use during pregnancy and risk of birth defects: National Birth Defects Prevention Study". Arch Pediatr Adolesc Med 163 (11): 978–85. doi:10.1001/archpediatrics.2009.188. PMID 19884587. 
  4. ^ "WHO Disease and injury country estimates". World Health Organization. 2009. http://www.who.int/healthinfo/global_burden_disease/estimates_country/en/index.html. Retrieved Nov. 11, 2009. 

External links


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