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Encyclopedia > Congenital disorder

A congenital disorder is any medical condition that is present at birth. The term congenital does not imply or exclude a genetic cause.[1] A congenital disorder can be recognized before birth (prenatally), at birth, or many years later. Congenital disorders can be a result of genetic abnormalities, the intrauterine environment, a mixture of both, or unknown factors. A disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. ... Parturition redirects here. ... A genetic disorder is a disease caused by abnormalities in genes or chromosomes. ... Prenatal means before birth (is widely used in biology). ... DNA, the molecular basis for inheritance. ...


Congenital conditions can be referred to as diseases, defects, disorders, anomalies, or simply genetic differences. The usage overlaps, but also involves a value judgement as to the harmfulness of the condition. In particular, people may disagree as to whether a specific physical anomaly should be considered a birth defect or a minor congenital anomaly. See human variability and disease for more on the occasional difficulties of drawing these distinctions. Human variability, or human variation, refers to the range of possible values for any measurable characteristic, physical or mental, of human beings. ... The term disease refers to an abnormal condition of an organism that impairs function. ...


A congenital disorder can have trivial or grave consequences. The most severe, such as anencephaly, are incompatible with life. Others, such as teratoma, vary from causing stillbirth to requiring fetal intervention or special delivery procedures such as the EXIT procedure, to needing surgery in the neonatal period. Congenital physical anomalies (birth defects) are a leading cause of death in early infancy, accounting for the deaths of nearly 2 out every 1000 infants in the United States. This article does not cite any references or sources. ... Look up teratoma in Wiktionary, the free dictionary. ... This article or section is in need of attention from an expert on the subject. ... Fetal intervention involves in-utero medical treatment for a fetus—usually one suffering from some form of birth defect. ... Exit procedure is a band formed in the suburbs of Eastchester. ...

Contents

Types of congenital disorder

"Congenital disorders" is a broad category that includes a variety of conditions. Congenital disorders include minor physical anomalies (e.g., a birthmark), severe malformations of single systems (e.g., congenital heart disease or dysmelia), and combinations of abnormalities affecting several parts of the body. Congenital defects of metabolism are also considered congenital disorders. A birthmark is a blemish on the skin formed before birth. ... A congenital disorder is a medical condition that is present at birth. ... Heart disease is an umbrella term for a number of different diseases which affect the heart and is the leading cause of death in the United States as of 2007. ... Dysmelia (from Greek Δύσ - = bad plus μέλος (plural μέλεα) = limb) is a congenital disorder referring to the limbs. ...


There are three major types of congenital disorders: 1. congenital physical anomalies 2. inborn errors of metabolism 3. other genetic disorders Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. ...


The following terms are used for various subsets of congenital disorders:

  • 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), tiny indentations of the skin near the ears (preauricular pits), shortness of the 4th metacarpal or metatarsal bones, or dimples over the lower spine (sac 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.
  • Genetic disorder 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.

Clinodactyly is a medical term describing a bend or curvature of the fifth fingers (the little fingers) toward the adjacent fourth fingers. ... The metacarpus is the intermediate part of the hand skeleton that is located between the fingers distally and the carpus which forms the connection to the forearm. ... The metatarsus consists of the five long bones of the foot, which are numbered from the medial side (ossa metatarsalia I.-V.); each presents for examination a body and two extremities. ... In medicine, the term syndrome is the association of several clinically recognizable features, signs, symptoms, phenomena or characteristics which often occur together, so that the presence of one feature alerts the physician to the presence of the others. ... An autosome is a non-sex chromosome. ... In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ... The word dominant has several possible meanings: In music theory, the dominant or dominant note (second most important) of a key is that which is a perfect fifth above the tonic; in just intonation the note whose pitch is 1. ... Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. ...

Congenital physical anomalies (birth defects)

Types

A limb malformation is called a dysmelia. These include all forms of malformations of limbs, such as amelia, ectrodactyly, phocomelia, polymelia, polydactyly, syndactyly, polysyndactyly, oligodactyly, brachydactyly, achrondroplasia, congenital aplasia or hypoplasia, amniotic band syndrome, and cleidocranial dysostosis. Dysmelia (from Greek Δύσ - = bad plus μέλος (plural μέλεα) = limb) is a congenital disorder referring to the limbs. ... Amelia (from Greek α = none plus μέλος (plural μέλεα) = limb) is the birth defect of lacking one or more limbs. ... Ectrodactyly, commonly known as Lobster claw syndrome, is a rare congenital deformity of the hand where the middle digit is missing, and the hand is cleft where the metacarpal of the finger should be. ... Phocomelia (from Greek φoko = seal plus μέλος (plural μέλεα) = limb) is a congenital disorder involving the limbs (dysmelia), that presents at birth very short or absent long bones and flipper-like appearance of hands and sometimes feet. ... // Polymelia (from Greek πολυ- = many plus μέλος (plural μέλεα) = limb) is a birth defect involving limbs (a type of dysmelia), in which the affected individual has more than the usual number of limbs. ... Polydactyly or polydactylism (from the Greek poly = many + daktylos = finger), also known as hyperdactyly, is a congenital physical anomaly consisting of supernumerary fingers or toes. ... In zoology, dactyly is the arrangement of digits (fingers and toes) on the hands, feet, or sometimes wings of an animal. ... Brachydactyly (Greek βραχί- = short plus δακτίλος = finger) is a medical term which literally means shortness of the fingers and toes (digits). ... see dwarf, and for insular dwarfism and other meanings see Dwarf (disambiguation). ... Aplasia is defective development resulting in the absence of all or part of an organ or tissue. ... Hypoplasia is an incomplete or arrested development of an organ or a part [1]. It is descriptive of many medical conditions such as: Underdeveloped breasts during puberty. ... Amniotic band syndrome (ABS, also called amniotic band constriction, congenital constriction bands or rings, congential amputation, ADAM syndrome) is a congenital disorder caused by entrapment of fetal parts (usually a limb or digits) in fibrous amniotic bands while in utero. ... Cleidocranial dysostosis or Cleidocranial dysplasia is a hereditary congenital abnormality of humans. ...


Congenital malformations 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 malformations of the heart.[1] Patent ductus arteriosus (PDA) is a congenital heart defect wherein a childs ductus arteriosus fails to close after birth. ... Atrial septal defects (ASD) are a group of congenital heart diseases that enables communication between atria of the heart and may involve the interatrial septum. ... A ventricular septal defect (or VSD) is a defect in the ventricular septum (the wall dividing the left and right ventricles of the heart). ... The tetralogy of Fallot is a congenital heart defect which classically has four anatomical components. ... Helen B. Taussig, (1898 - 1986) was an american cardiologist, working in Baltimore and Boston, who created the Blalock-Taussig shunt Categories: History of medicine ...


Congenital malformations of the nervous system include neural tube defects such as spina bifida, meningocele, meningomyelocele, encephalocele and anencephaly. Other congenital malformations 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. The neural tube is the embryonal structure that gives rise to the brain and spinal cord. ... Spina bifida is a Latin term which means split spine and describes birth defects caused by an incomplete closure of one or more vertebral arches of the spine, resulting in malformations of the spinal cord. ... ... This article does not cite any references or sources. ... Arnold-Chiari malformation, sometimes referred to as Chiari malformation or ACM, is a congenital anomaly of the brain. ... Dandy-Walker syndrome is a congenital brain malformation involving the cerebellum and the fluid filled spaces around it. ... It has been suggested that this article or section be merged with Micrencephaly. ... Cephalic disorders are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. ... Polymicrogyria is a neuronal developmental disorder. ... Cephalic disorders are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. ... Agenesis of the Corpus Callosum (ACC) is a rare birth defect (congenital disorder) in which there is a complete or partial absence of the corpus callosum. ...


Occurrence rate

About 3% of newborns have a "major physical anomaly", meaning a physical anomaly that has cosmetic or functional significance.[2]


Congenital malformations involving the brain are the largest group at 10 per 1000 live births, compared to heart at 8 per 1000, kidneys at 4 per 1000, and limbs at 1 per 1000. All other physical anomalies have a combined incidence of 6 per 1000 live births. In animals, the brain or encephalon (Greek for in the head), is the control center of the central nervous system, responsible for behaviour. ... The heart and lungs, from an older edition of Grays Anatomy. ... The kidneys are organs that filter wastes (such as urea) from the blood and excrete them, along with water, as urine. ... Look up Limb in Wiktionary, the free dictionary. ...


Congenital malformations of the heart have the highest risk of death in infancy, accounting for 28% of infant deaths due to birth defects, while chromosomal abnormalities and respiratory abnormalities each account for 15%, and brain malformations about 12%. Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ...


Causes

The cause of 40-60% of congenital physical anomalies (birth defects) in humans is unknown. These are referred to as sporadic birth defects, a term that implies an unknown cause, random occurrence, 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 abnormalities 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 abnormalities.[3] A chromosome abnormality reflects an abnormality of chromosome number or structure. ...


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. Heredity (the adjective is hereditary) is the transfer of characteristics from parent to offspring through their genes, or the transfer of a title, style or social status through the social convention known as inheritance (for example, a Hereditary Title may be passed down according to relevant customs and/or laws). ... For a non-technical introduction to the topic, see Introduction to Genetics. ... It has been suggested that mutant be merged into this article or section. ... A germ cell is part of the germline and is involved in the reproduction of organisms. ...


Environmental causes of congenital anomalies are referred to as teratogenic. These are generally problems with the mother. Teratogens can include dietary deficiencies, toxins, or infections. For example, dietary deficiency of maternal folic acid is associated with spina bifida. Ingestion of harmful substances by the mother (e.g, alcohol, mercury, or prescription drugs such as phenytoin) can cause recognizable combinations of birth defects. // Teratogenesis is a medical term from the Greek, literally meaning monster-birth, which derives from teratology, the study of the frequency, causation, and development of congenital malformations—misleadingly called birth defects. ... Wikipedia does not yet have an article with this exact name. ... Folic acid and folate (the anion form) are forms of the water-soluble Vitamin B9. ... Fetal alcohol syndrome or FAS is a disorder of permanent birth defects that occurs in the offspring of women who drink alcohol during pregnancy. ... General Name, Symbol, Number mercury, Hg, 80 Chemical series transition metals Group, Period, Block 12, 6, d Appearance silvery Standard atomic weight 200. ... Phenytoin sodium (marketed as Dilantin® in the USA and as Epanutin® in the UK, by Parke-Davis, now part of Pfizer) is a commonly used antiepileptic. ...


Several infections which a mother can contract during pregnancy can also be teratogenic. These are referred to as the TORCH infections. // Teratogenesis is a medical term from the Greek, literally meaning monster-birth, which derives from teratology, the study of the frequency, causation, and development of congenital malformations—misleadingly called birth defects. ... TORCH infections are a group of infections that can lead to birth defects. ...


Teratogens

The greatest risk of a malformation due to environmental exposure to a teratogen (terato = monster, gen = producing) is between the third and eighth week of gestation. Before this time, any damage to the embryo is likely to result in fatality, and the baby will not be born. After eight weeks, the fetus and its organs are more developed and less sensitive to teratogenic incidents. Teratogenesis is a medical term from the Greek, literally meaning monster making. ... Gestation is the carrying of an embryo or fetus inside a female viviparous animal. ... For other uses, see Embryo (disambiguation). ... Teratogenesis is a medical term from the Greek, literally meaning monster making. ...


The type of birth defect is also related to the time of exposure to a teratogen. For instance, the heart is susceptible from three to eight weeks, but the ear is susceptible from a slightly later time to about twelve weeks. The heart and lungs, from an older edition of Grays Anatomy. ... The ear is the sense organ that detects sounds. ...


Many common skin care ingredients can be absorbed through the skin in small amounts, where they can enter the bloodstream and pass into baby's circulation.


Infection in the mother early in the third week may damage the heart. An infection in the eleventh week is less likely to damage the heart, but the baby may be born deaf. The word deaf can have very different meanings depending on the background of the person speaking or the context in which the word is used. ...


Other congenital disorders

Besides congenital physical anomalies, the main types of congenital disorders are inborn errors of metabolism and other genetic disorders.


References

  1. ^ Kumar, Abbas and Fausto, eds., Robbins and Cotran's Pathologic Basis of Disease, 7th edition, p.470.
  2. ^ Kumar, Abbas and Fausto, eds., Robbins and Cotran's Pathologic Basis of Disease, 7th edition, p.470.
  3. ^ Kumar, Abbas and Fausto, eds., Robbins and Cotran's Pathologic Basis of Disease, 7th edition, p.473.
  • CDC’s National Center on Birth Defects and Developmental Disabilities
  • The National Library of Medicine or MEDLINE/PubMed MeSH (medical subject heading) term
  • Birth Defects Are Preventable
  • Medical dictionary definition of congenital from KMLE Medical Dictionary retrieved on 2007-03-25
  • James F. Crow, "The High Spontaneous Mutation Rate: Is it a Health Risk?"
  • American College of Medical Genetics

External links

See also


  Results from FactBites:
 
Reference.com/Encyclopedia/Congenital disorder (1099 words)
A congenital disorder is any medical condition that is present at birth, as contrasted with an acquired disorder.
Single-gene defects may arise from abnormalities of both copies of an autosomal gene (a recess disorder) or of only one of the two copies (a dominant disorder).
Congenital conditions can be referred to as diseases, defects, disorders, anomalies, or simply genetic differences.
  More results at FactBites »

 
 

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