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07-SEPTEMBER-2008 03:17:44 - Congenital disorder Redirected from Congenital malformation This article may require cleanup to meet 's quality standards. Please improve this article if you can. March 2008 Congenital disorder Classification and external resources MeSH D009358 A congenital disorder is a disease or disorder that is present at birth. It may be the result of genetic abnormalities, the intrauterine uterus environment, errors of morphogenesis, or a chromosomal abnormality. The outcome of the disorder will further depend on complex interactions between the pre-natal deficit and the post-natal environment.1 Congenital disorders vary widely in causation and abnormalities. Contents 1 Other terms and definitions 2 See also 3 References 4 External links Other terms and definitions 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 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. 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 Mitochondrial disease March of Dimes References ^ a b Birth Defects Research. Centers for Disease Control and Prevention. 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 James F. Crow, The High Spontaneous Mutation Rate: Is it a Health Risk? American College of Medical Genetics External links CDC's National Center on Birth Defects and Developmental Disabilities Comprehensive coverage of congenital disorders and birth defects at Answers.com Retrieved from http://en..org/wiki/Congenital_disorder Categories: Congenital disorders | Developmental biologyHidden categories: Cleanup from March 2008 | All pages needing cleanup Views Article Discussion this page History Personal tools Log in / create account Navigation Main page Contents Featured content Current events Random article Search Go Search Interaction Community portal Recent changes Contact Donate to Help Toolbox What links here Related changes Upload file Special pages Printable version Permanent link Cite this page Languages العربية БългарÑ?ки Deutsch Español Français Bahasa Indonesia Nederlands Oromoo Polski Português Simple English СрпÑ?ки / Srpski Svenska Tiếng Việt Walon This page was last modified on 18 August 2008, at 22:16
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