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Birth defect

A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause.[3] Birth defects may result in disabilities that may be physical, intellectual, or developmental.[3] The disabilities can range from mild to severe.[7] Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works.[4] Functional disorders include metabolic and degenerative disorders.[4] Some birth defects include both structural and functional disorders.[4]

This article is about congenital disorders in humans. Not to be confused with teratology or genetic disorder.

Birth defect

Congenital disorder, congenital disease, congenital deformity, congenital anomaly[1]

Medical genetics, pediatrics

Physical disability, intellectual disability, developmental disability[3]

Present at birth[3]

Structural, functional[4]

Genetics, exposure to certain medications or chemicals, certain infections during pregnancy[5]

Insufficient folic acid, drinking alcohol or smoking, poorly controlled diabetes, mother over the age of 35[6][7]

Therapy, medication, surgery, assistive technology[8]

3% of newborns (US)[2]

628,000 (2015)[9]

Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy.[5] Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old.[6][7] Many are believed to involve multiple factors.[7] Birth defects may be visible at birth or diagnosed by screening tests.[10] A number of defects can be detected before birth by different prenatal tests.[10]


Treatment varies depending on the defect in question.[8] This may include therapy, medication, surgery, or assistive technology.[8] Birth defects affected about 96 million people as of 2015.[11] In the United States, they occur in about 3% of newborns.[2] They resulted in about 628,000 deaths in 2015, down from 751,000 in 1990.[9][12] The types with the greatest numbers of deaths are congenital heart disease (303,000), followed by neural tube defects (65,000).[9]

A congenital physical anomaly is an abnormality of the structure of a body part. It may or may not be perceived as a problem condition. Many, if not most, people have one or more if examined carefully. Examples of minor anomalies can include curvature of the fifth finger (clinodactyly), a third nipple, tiny indentations of the skin near the ears (preauricular pits), shortness of the fourth metacarpal or metatarsal bones, or dimples over the lower spine (sacral dimples). Some minor anomalies may be clues to more significant internal abnormalities.

minor physical anomalies

Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical anomaly that is recognizable at , and which is significant enough to be considered a problem. According to the Centers for Disease Control and Prevention (CDC), most birth defects are believed to be caused by a complex mix of factors including genetics, environment, and behaviors,[13] though many birth defects have no known cause. An example of a birth defect is cleft palate, which occurs during the fourth through seventh weeks of gestation.[14] Body tissue and special cells from each side of the head grow toward the center of the face. They join to make the face.[14] A cleft means a split or separation; the "roof" of the mouth is called the palate.[15]

birth

A congenital malformation is a 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.

[16]

deformation

When multiple effects occur in a specified order, they are known as a . When the order is not known, it is a syndrome.

sequence

Prevention[edit]

Folate supplements decrease the risk of neural tube defects. Tentative evidence supports the role of L-arginine in decreasing the risk of intrauterine growth restriction.[98]

Data obtained on opposite-sex twins. ** — Data[116] were obtained in the period 1983–1994.

[108]

Idiopathic

List of congenital disorders

List of ICD-9 codes 740-759: Congenital anomalies

Malformative syndrome

March of Dimes

Mitochondrial disease

founded 1997

National Birth Defects Prevention Network

Supernumerary body part

WHO fact sheet on birth defects

CDC's National Center on Birth Defects and Developmental Disabilities