Congenital disorder involves defects in or damage to a developing fetus A fetus Pronounced Fee-tus is a developing mammal or other viviparous vertebrate after the embryonic stage and before birth. It may be the result of genetic Genetics , a discipline of biology, is the science of heredity and variation in living organisms. The fact that living things inherit traits from their parents has been used since prehistoric times to improve crop plants and animals through selective breeding. However, the modern science of genetics, which seeks to understand the process of abnormalities, the intrauterine (uterus The uterus (from Latin "uterus" , plural uteruses or uteri) or womb is a major female hormone-responsive reproductive sex organ of most mammals including humans. One end, the cervix, opens into the vagina, while the other is connected to one or both fallopian tubes, depending on the species. It is within the uterus that the fetus) environment, errors of morphogenesis Morphogenesis , is the biological process that causes an organism to develop its shape. It is one of three fundamental aspects of developmental biology along with the control of cell growth and cellular differentiation, or a chromosomal A chromosome is an organized structure of DNA and protein that is found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions. The word chromosome comes from the Greek χρῶμα abnormality. The outcome of the disorder will further depend on complex interactions between the pre-natal Pregnancy is the carrying of one or more offspring, known as a fetus or embryo, inside the womb of a female. In a pregnancy, there can be multiple gestations, as in the case of twins or triplets. Human pregnancy is the most studied of all mammalian pregnancies. Childbirth usually occurs about 38 weeks after conception; i.e., approximately 40 weeks deficit and the post-natal Postnatal is the period beginning immediately after the birth of a child and extending for about six weeks. Another term would be postpartum period, as it refers to the mother (whereas postnatal refers to the infant). Less frequently used is puerperium environment.[1] Animal studies indicate that the mother's (and possibly the father's) diet, vitamin A vitamin is an organic compound required as a nutrient in tiny amounts by an organism. In other words, an organic chemical compound is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet. Thus, the term is conditional both on the circumstances and the particular organism. For intake, and glucose Glucose , a simple sugar (monosaccharide), is an important carbohydrate in biology. Cells use it as a source of energy and a metabolic intermediate. Glucose is one of the main products of photosynthesis and starts cellular respiration. Starch and cellulose are polymers derived from the dehydration of glucose. The name "glucose" comes levels prior to ovulation Ovulation is the process in a female's menstrual cycle by which a mature ovarian follicle ruptures and discharges an ovum . Ovulation also occurs in the estrous cycle of other female mammals, which differs in many fundamental ways from the menstrual cycle. The time immediately surrounding ovulation is referred to as the ovulatory phase or the 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 Teratology is the study of abnormalities of physiological development. It is often thought of as the study of birth defects, but it is much broader than that, taking in other developmental stages, such as puberty; and other life forms, such as plants. The older term congenital [1] disorder does not necessarily refer to a genetic disorder A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to a genetic disorders, they can also be caused by environmental factors. Most disorders are quite rare and affect one person in every several thousands or millions. Some types of recessive gene disorders confer an despite the similarity of the words.
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Classification
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
Main article: Congenital abnormalitySeveral 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 Clinodactyly is a medical term describing a bend or curvature of the fifth fingers toward the adjacent fourth fingers. It is a fairly common isolated anomaly which often goes unnoticed, but also occurs in combination with other abnormalities in many genetic syndromes, such as Russell-Silver syndrome, Feingold Syndrome or Down Syndrome. When), a third nipple, tiny indentations of the skin near the ears (preauricular pits), shortness of the 4th metacarpal In human anatomy, the metacarpus is the intermediate part of the hand skeleton that is located between the phalanges distally and the carpus which forms the connection to the forearm. The metacarpus consists of metacarpal bones. Its equivalent in the foot is the metatarsus or metatarsal The metatarsus or metatarsal bones are a group of five long bones in the foot located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes. Lacking individual names, the metatarsal bones are numbered from the medial side : the first, second, third, fourth, and fifth metatarsal. The metatarsals are analogous to the 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 The Centers for Disease Control and Prevention is a United States federal agency under the Department of Health and Human Services based in Atlanta, Georgia. It works to protect public health and safety by providing information to enhance health decisions, and it promotes health through partnerships with state health departments and other 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.
- A congenital malformation is a congenital Congenital disorder or anomaly involves defects in or damage to a developing fetus. It may be the result of genetic abnormalities, the intrauterine environment, errors of morphogenesis, infection, or a chromosomal abnormality. The outcome of the disorder will further depend on complex interactions between the pre-natal deficit and the post-natal 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 In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms (reported by the patient), phenomena or characteristics that often occur together, so that the presence of one feature alerts the physician to the presence of the others. In recent decades, the term has been used outside medicine.
- Some conditions are due to abnormal tissue development:
- A malformation is associated with a disorder of tissue development.[3] Malformations often occur in the first trimester.
- A dysplasia Dysplasia , is a term used in pathology to refer to an abnormality of development. This generally consists of an expansion of immature cells, with a corresponding decrease in the number and location of mature cells. Dysplasia is often indicative of an early neoplastic process. The term dysplasia is typically used when the cellular abnormality is is a disorder at the organ level that is due to problems with tissue development.[3]
- It is also possible for conditions to arise after tissue is formed:
- A deformation Deformity can occur in non-humans, as well. Frogs can be mutated due to Ribeiroia infection is a condition arising from mechanical stress to normal tissue.[3] Deformations often occur in the second or third semester, and can be due to oligohydramnios Oligohydramnios is a condition in pregnancy characterized by a deficiency of amniotic fluid. It is the opposite of polyhydramnios.
- A disruption involves breakdown of normal tissues.[3]
- When multiple effects occur in a specified order, it is known as a sequence It differs from a syndrome in that seriality is more predictable: if A causes B, and B causes C, and C causes D, then D would not be seen if C is not seen. However, in less formal contexts, the term "syndrome" is sometimes used instead of sequence. When the order is not known, it is a syndrome In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms (reported by the patient), phenomena or characteristics that often occur together, so that the presence of one feature alerts the physician to the presence of the others. In recent decades, the term has been used outside medicine.
Other
- Genetic disorders A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to a genetic disorders, they can also be caused by environmental factors. Most disorders are quite rare and affect one person in every several thousands or millions. Some types of recessive gene disorders confer an 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 An autosome is a chromosome that is not a sex chromosome – that is to say there are an equal number of copies of the chromosome in males and females. For example, in humans, there are twenty-two pairs of autosomes, and, in addition, there are the X and Y sex chromosomes 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 Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others (products). In most of the disorders, problems arise due to accumulation of substances which are toxic or. 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.
Causes
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Antibiotics
Use of antibiotics In common usage, an antibiotic is a substance or compound that kills bacteria or inhibits their growth. Antibiotics belong to the broader group of antimicrobial compounds, used to treat infections caused by microorganisms, including fungi and protozoa around the time of conception, particularly sulfonamides Sulfonamide is the basis of several groups of drugs. The original antibacterial sulfonamides are synthetic antimicrobial agents that contain the sulfonamide group. Some sulfonamides are also devoid of antibacterial activity, e.g., the anticonvulsant sultiame. The sulfonylureas and thiazide diuretics are newer drug groups based on the antibacterial and nitrofurantoin Nitrofurantoin is an antibiotic which is marketed under the following brand names; Furadantin, Macrobid, Macrodantin, Nitrofur Mac, Nitro Macro Nifty-SR and Urantoin. It is usually used in treating urinary tract infection. Like many other drugs, it is often used against E. coli are associated with major birth defects. Whether or not this association is causal has not been determined.[4]
Petroleum
Petroleum Petroleum or crude oil is a naturally occurring, toxic, flammable liquid consisting of a complex mixture of hydrocarbons of various molecular weights, and other organic compounds, that are found in geologic formations beneath the Earth's surface. Petroleum is recovered mostly through oil drilling. It is refined and separated, most easily by (oil) and petroleum Petroleum or crude oil is a naturally occurring, toxic, flammable liquid consisting of a complex mixture of hydrocarbons of various molecular weights, and other organic compounds, that are found in geologic formations beneath the Earth's surface. Petroleum is recovered mostly through oil drilling. It is refined and separated, most easily by distillates cause birth defects.[5]
Epidemiology
Disability-adjusted life year The disability-adjusted life year is a measure of overall disease burden. Originally developed by the World Health Organization, it is becoming increasingly common in the field of public health and health impact assessment (HIA). It "extends the concept of potential years of life lost due to premature death...to include equivalent years of ‘ for congenital anomalies per 100,000 inhabitants in 2004.[6] 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 950Cell division errors can be due to a lack of nutrients or availability of atomic building blocks, or the presence of toxins A toxin is a poisonous substance produced by living cells or organisms (although humans are technically living organisms, man-made substances created by artificial processes usually are not considered toxins by this definition). It was the organic chemist Ludwig Brieger (1849–1919) who first used the term 'toxin' 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 Folic acid and folate (the naturally occurring form), as well as pteroyl-L-glutamic acid and pteroyl-L-glutamate, are forms of the water-soluble vitamin B9. Folic acid is itself not biologically active, but its biological importance is due to tetrahydrofolate and other derivatives after its conversion to dihydrofolic acid in the liver in the diet of a mother can cause cellular neural tube In the developing vertebrate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord. The neural groove gradually deepens as the neural folds become elevated, and ultimately the folds meet and coalesce in the middle line and convert the groove into a closed tube, the neural tube or neural deformities that result in Spina Bifida Spina bifida is a developmental birth defect caused by the incomplete closure of the embryonic neural tube. Some vertebrae overlying the spinal cord are not fully formed and remain unfused and open. If the opening is large enough, this allows a portion of the spinal cord to protrude through the opening in the bones. There may or may not be a fluid-.
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 uterus (from Latin "uterus" , plural uteruses or uteri) or womb is a major female hormone-responsive reproductive sex organ of most mammals including humans. One end, the cervix, opens into the vagina, while the other is connected to one or both fallopian tubes, depending on the species. It is within the uterus that the fetus, 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 Conjoined twins are identical twins whose bodies are joined in utero. A rare phenomenon, the occurrence is estimated to range from 1 in 50,000 births to 1 in 100,000 births, with a somewhat higher incidence in Southwest Asia and Africa. Approximately half are stillborn, and a smaller fraction of pairs born alive have abnormalities incompatible, 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
- Congenital abnormality
- List of congenital disorders
- ICD-10 Chapter Q: Congenital malformations, deformations and chromosomal abnormalities
- List of ICD-9 codes 740-759: Congenital anomalies Microcephaly · Congenital hydrocephalus
- Mitochondrial disease Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles that are the "powerhouses" of the eukaryotic cells that compose higher-order life-forms . The mitochondria convert the energy of food molecules into the ATP that powers most cell functions
- March of Dimes March of Dimes is a United States health charity whose mission is to improve the health of babies by preventing birth defects, premature birth, and infant mortality. It was founded in 1938 as the National Foundation for Infantile Paralysis by President Franklin D. Roosevelt to defeat the epidemic disease poliomyelitis
References
- ^ a b Birth Defects Research. Centers for Disease Control and Prevention.
- ^ Rutecki GW. Pre-prenatal care: a primary care primer on the future. Consultant. 2010;50:129.
- ^ a b c d Graham, John Whichello (2007). Smith's Recognizable Patterns of Human Deformation, 3rd Edition. Philadelphia: Saunders. pp. 3. ISBN The International Standard Book Number is a unique numeric commercial book identifier based upon the 9-digit Standard Book Numbering (SBN) code created by Gordon Foster, now Emeritus Professor of Statistics at Trinity College, Dublin, for the booksellers and stationers W.H. Smith and others in 1966 0-7216-1489-2.
- ^ 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 A digital object identifier is a character string used to uniquely identify an electronic document or other object. Metadata about the object is stored in association with the DOI name and this metadata may include a location, such as a URL, where the object can be found. The DOI for a document is permanent, whereas its location and other metadata:10.1001/archpediatrics.2009.188. PMID A PMID is a unique number assigned to each PubMed citation of life sciences and biomedical scientific journal articles. The related Pubmed Central archive may additionally assign a separate number, a PMCID (PubMed Central Identifier), normally written with a PMC prefix 19884587.
- ^ "Pennsylvania, New Jersey – Philadelphia Toxic Tort / Chemical Injury Attorneys". www.lockslaw.com. http://www.lockslaw.com/html/petroleum.html. Retrieved 2010-05-04.
- ^ "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.
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MarketWatch (press release) ... human pain disorders , including Congenital Indifference to Pain (CIP), Primary Erythromelalgia (PEP) and Paroxysmal Extreme Pain Disorder (PEPD). ...
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fault has rendered his immune system to help stop the rapid spreading of the HPV virus through his body Until now doctors or even experts have no cure for this rare disease Albinism A Sweden girl was diagnosed to have inherited the congenital disorder which called albinism or albino disease Due to the insufficient amount of the pigment melanin production in the body
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