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, 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. Any substance that causes birth defects is known as a teratogen. The older term congenital [1] disorder does not necessarily refer to a genetic disorder despite the similarity of the words.

[edit] 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 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.

[edit] Epidemiology

Disability-adjusted life year for congenital anomalies per 100,000 inhabitants in 2004.^[2]

     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

[edit] 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
• Cousin couple

[edit] References

[edit] External links

• CDC’s National Center on Birth Defects and Developmental Disabilities
• Comprehensive coverage of congenital disorders and birth defects at Answers.com
• Congenital Anomalies, official journal of the Japanese Teratology Society
• Stop CMV - The CMV Action Network