Congenital Disorders


A congenital disorder, also known as a congenital disease, deformity, birth defect, or anomaly, is a condition existing at or before birth regardless of cause.

Birth, also known as parturition, is the act or process of bearing or bringing forth offspring.

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Of these disorders, those characterized by structural deformities are termed "congenital anomalies" and involve defects in a developing fetus.

In human development, a fetus or foetus is a prenatal human between the embryonic state and birth.

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Birth defects vary widely in cause and symptoms.


Any substance that causes birth defects is known as a teratogen.

Teratology is the study of abnormalities of physiological development.


Some disorders can be detected before birth through prenatal diagnosis.

Prenatal diagnosis and prenatal screening are aspects of prenatal care that focus on detecting anatomic and physiologic problems with the zygote, embryo, or fetus as early as possible, either before gestation even starts or as early in gestation as practicable.

Obstetrics is the field of study concentrated on pregnancy, childbirth, and the postpartum period.


Birth defects may be the result of genetic or environmental factors.

A gene is a locus of DNA which is made up of nucleotides and is the molecular unit of heredity.


This includes errors of morphogenesis, infection, epigenetic modifications on a parental germline, or a chromosomal abnormality.

Infection is the invasion of an organism's body tissues by disease-causing agents, their multiplication, and the reaction of host tissues to these organisms and the toxins they produce.

Epigenetics studies genetic effects not encoded in the DNA sequence of an organism, hence the prefix epi-.

A chromosome is a packaged and organized structure containing most of the DNA of a living organism.


The outcome of the disorder will depend on complex interactions between the pre-natal deficit and the post-natal environment.


Animal studies indicate that the mother's diet, vitamin intake, and glucose levels prior to ovulation and conception have long-term effects on fetal growth and adolescent and adult disease.

A vitamin is an organic compound and a vital nutrient that an organism requires in limited amounts.


Animal studies have shown that paternal exposures prior to conception and during pregnancy result in increased risk of certain birth defects and cancers.

Pregnancy, also known as gravidity or gestation, is the time during which one or more offspring develops inside a woman.


This research suggests that paternal food deprivation, germ line mutations, alcohol use, chemical mutagens, age, smoking habits and epigenetic alterations can affect birth outcomes.

In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.


However, the relationship between offspring health and paternal exposures, age, and lifestyle are still relatively weak.


This is likely because paternal exposures and their effects on the fetus are studied far less extensively than maternal exposures.


Birth defects are present in about 3% of newborns in USA.


Congenital anomalies resulted in about 632,000 deaths per year in 2013 down from 751,000 in 1990.


The type with the greatest numbers of deaths are congenital heart disease, followed by neural tube defects.

In the developing chordate, the neural tube is the embryo's precursor to the central nervous system, which comprises the brain and spinal cord.

Neural tube defects are a group of conditions in which an opening in the spinal cord or brain remains from early in human development.

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