Maladie congénitale
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29128190
2008-04-30T12:39:34Z
Ohkami
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[[User:EDUCA33E/LiveRC/Documentation|LiveRC]] : Révocation des modifications de [[Special:Contributions/85.68.171.62|85.68.171.62]]; retour à la version de [[User:90.9.112.7|90.9.112.7]]
{{ébauche|médecine}}
Une '''maladie congénitale''' est un état médical présent à la [[naissance]]. Une maladie congénitale peut être identifiée avant la naissance (prénatal), à la naissance, ou diverses années plus tard. Les maladies congénitales peuvent être dues à des anomalies [[génétique]]s, à l'[[environnement]] intra-utérin, ou à des facteurs inconnus. <!--A congenital condition can arise from the genetic make-up of the [[zygote|fertilized egg]] or be acquired at any time during [[embryogenesis|fetal development]]. The causes of many congenital disorders are not known.
Congenital disorders include minor physical anomalies (e.g., a [[birthmark]]), severe malformations of single systems (e.g., congenital [[heart disease]] or [[amelia]] of the legs), and combinations of abnormalities affecting several parts of the body. Defects of metabolism are also considered congenital disorders. A congenital disorder can have trivial or grave effects. The most severe, such as [[Cephalic_disorders|anencephaly]], are incompatible with life.
About 2-3% of babies are born with significant congenital birth defects. By organ system, birth defects involving the [[brain]] are the largest group at 10 per 1000 live births), compared to [[heart]] at 8 per 1000, [[kidney]]s at 4 per 1000, and [[limb]]s at 2 per 1000. All other defects have a combined incidence of 6 per 1000 live births.
About 25% of birth defects result from [[genetic]] abnormalities. About 5% involve abnormalities of large portions or entire [[chromosome]]s. Some congenital disorders arise from [[heredity|inheritance]] of abnormal [[gene]]s from the parents but some can arise from a new [[mutation]] in one of the [[germ cell]]s that contributed to the fetus.
Influences of the intrauterine environment of the fetus which can cause birth defects are referred to as [[teratogenesis|teratogenic]]. These can include dietary deficiencies, toxic effects, or infections. For example, dietary deficiency of maternal [[folic acid]] is associated with [[spina bifida]]. Exposure to harmful substances during pregnancy (e.g, [[mercury (element)|mercury]]) or maternal drugs (e.g., [[phenytoin]]) can cause recognizable combinations of birth defects. Many infections (e.g., [[rubella]], [[syphilis]]), which a mother can contract during pregnancy can affect the baby.
A significant proportion of birth defects cannot be attributed to either genetic abnormalities or environmental exposures. These are referred to as '''sporadic birth defects''', a term which implies an unknown cause, random occurrence, and and a low recurrence risk for future children. -->
==Terminologie==
===Maladie congénital===
===Défaut de naissance===
<!--'''Birth defect''' is a widely-used term for a structural malformation of a body part, recognizable at birth, which is significant enough to be perceived as a problem.-->
===Anomalie physique congénitale===
<!--A '''congenital physical anomaly''' is a difference, an abnormality, of the structure of a body part. An anomaly may or may not be perceived as a problem condition. Many people, if examined carefully, have minor physical anomaly. 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 (sacral dimples). Some minor anomalies may be clues to more significant internal abnormalities.-->
===Malformation congénitale===
<!--A '''congenital malformation''' is a deleterious physical anomaly, a structural defect perceived as a problem. A recognizable combination of malformations or problems affecting more than one body part is referred to as a malformation [[syndrome]].-->
===Maladie génétique===
<!--'''[[Genetic disease]]s''' or disorders 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 [[autosome|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.-->
===Maladie métabolique congénitale===
<!--A '''congenital metabolic disease''' is also referred to as an '''[[inborn error of metabolism]]'''. Most of these are single gene defects, usually inheritable. Many affect the structure of body parts but some simply affect the function.
Finally note that 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. See [[human variability]] and [[disease]] for more on the occasional difficulties of drawing these distinctions.-->
==Risque de défauts de naissance au long de la gestation==
<!--The greatest risk of a malformation occurring 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 is less sensitive to teratogenic incidents.
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.
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]].-->
== Liste de maladies congénitales==
* [[Syndrome d'Aicardi]]
* [[Syndrome d'alcoolisation fœtale]]
* [[Amélie|Amélie et hémimélie]]
* [[Anencéphalie]]
* [[Syndrome d'Angelman]]
* [[Syndrome de la bande amniotique]]
* [[Syndrome de Bannayan-Zonana]]
* [[Syndrome de Barth]]
* [[Syndrome de Beckwith-Wiedemann]]
* [[Syndrome de Bloom]]
* [[syndrome CHARGE]]
* Anomalies du [[chromosome 16 humain]]
* Anomalies du [[chromosome 18 humain]]
* Anomalies du [[chromosome 20 humain]]
* Anomalies du [[chromosome 22 humain]]
* [[Syndrome de Costello]]
* [[Syndrome du cri du chat]]
* [[Syndrome de De Lange]]
* [[Syndrome de Down]]
* [[Dysplasie ectodermique]]
* [[Ectopia cordis]]
* [[Syndrome de Freeman-Sheldon]]
* [[Gastroschisis]]
* [[Gigantisme cérébral]]
* [[Hernie ombilicale]]
* [[Holoproencéphalie]]
* [[Incontinentia Pigmenti]]
* [[Syndrome d'Ivemark]]
* [[Syndrome de Jacobsen]]
* [[Jumeaux siamois]] <!--Conjoined twins???-->
* [[Syndrome de Karsch-Neugebauer]]
* [[Syndrome de Klinefelter]]
* [[Syndrome de Larsen]]
* [[Syndrome de Laurence-Moon]]
* [[Lissencéphalie]]
* [[Microcéphalie]]
* [[Microsomie hémifaciale]]
* [[Monosomie 9p-]]
* [[Mucoviscidose]]
* [[Syndrome du nævus à cellules basales]]
* [[syndrome Nail-Patella]]
* [[Ictère néonatal]]
* [[Neurofibromatose de type I]]
* [[Neurofibromatose de type II]]
<!--* [[Neuronal Ceroid-Lipofuscinosis]]-->
* [[Syndrome de Noonan]]
* [[Syndrome de Ochoa]]
* [[Syndrome oculocérébrorénal]]
* [[Syndrome de l'œil de chat]]
* [[Syndrome de Pallister-Killian]]
* [[Syndrome de Prader-Willi]]
* [[Syndrome Proteus]]
* [[Syndrome de Prune Belly]]
* [[Syndrome de Rett]]
* [[Syndrome de Robinow]]
* [[Syndrome de Rubinstein-Taybi]]
* [[Schizencéphalie]]
* [[Situs inversus]]
* [[Syndrome de Smith-Lemli-Opitz]]
* [[Syndrome de Smith-Magenis]]
* [[Syndrome de Sturge-Weber]]
* [[Syphilis congénitale]]
* [[Thyroidite autoimmune de Hashimoto]]
* [[Transfusion fœto-fœtale]]
* [[Trichothiodystrophie]]
* [[Trisomie distale 10q]]
* [[Femme triple-X]]
* [[Trisomie 13]]
* [[Trisomie 9]]
* [[Syndrome de Turner]]
* [[Syndrome d'Usher]]
* [[Syndrome de Waardenburg]]
* [[Syndrome de Werner]]
* [[Syndrome de Wolf-Hirschhorn syndrome]]
Quelques autres maladies de naissance :
<!--* [[Cleft lip]]
* [[Cleft palate]]
* [[Club foot]]-->
* [[Spina bifida]]
* [[syndrome de rigueur]]
==Voir aussi==
* [[Cerebral arteriovenous malformation]]
* [[Congenital rubella syndrome]]
* [[Ectopie]]
* [[syphilis#Syphilis congénitale|Syphilis]]
* [[Hydrocéphalie]]
==Référence ==
* {{en}} [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=mesh&list_uids=81000151&dopt=Full MeSH The National Library of Medicine or MEDLINE/PubMed] (medical subject heading) term
{{portail médecine}}
[[Catégorie:Maladie congénitale|*]]
[[Catégorie:Biologie du développement]]
[[ar:عيب ولادة]]
[[bg:Вроден дефект]]
[[en:Congenital disorder]]
[[es:Enfermedad congénita]]
[[id:Kelainan bawaan]]
[[nl:Aangeboren afwijking]]
[[om:Congenital Disorder]]
[[pl:Wady wrodzone]]
[[pt:Doença congênita]]
[[sr:Малформација]]
[[sv:Missbildning]]
[[vi:Bất thường bẩm sinh]]
[[wa:Maladeye di nexhance]]