Birth defects: Causes
- Carlos A Bacino, MD, FACMG
Carlos A Bacino, MD, FACMG
- Professor of Molecular and Human Genetics
- Baylor College of Medicine
- Section Editors
- Helen V Firth, DM, FRCP, DCH
Helen V Firth, DM, FRCP, DCH
- Section Editor — Genetics
- Consultant Clinical Geneticist
- Addenbrooke's Hospital, Cambridge, UK
- Louise Wilkins-Haug, MD, PhD
Louise Wilkins-Haug, MD, PhD
- Section Editor — Prenatal Diagnosis and Genetics
- Professor of Obstetrics, Gynecology, and Reproductive Biology
- Harvard Medical School
A birth defect is any structural anomaly present at birth. These defects can be caused by genetic abnormalities and/or environmental exposures, although the underlying etiology is often unknown. Birth defects can be isolated or present in a characteristic combination or pattern that may affect one or more organ systems. A genetic disorder or genetic abnormality is caused by a change or mutation in the genome that often leads to a medical consequence. Even though most genetic disorders are congenital, they can have a delayed clinical presentation or even adult onset. These disorders can be inherited or the result of a new mutation.
This topic discusses the causes of birth defects. The epidemiology, types, patterns, and evaluation of birth defects are discussed in detail separately, as are specific congenital anomalies. (See "Birth defects: Epidemiology, types, and patterns" and "Birth defects: Approach to evaluation".)
The causes of congenital anomalies are genetic and nongenetic .
Genetic abnormalities include:
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- GENETIC ABNORMALITIES
- Chromosomal disorders
- Disorders due to single gene defects
- Genetic disorders with non-Mendelian patterns of inheritance
- Genetic susceptibility
- Route of exposure
- Dose and duration of exposure
- Mechanisms of teratogenesis
- Specific teratogens
- - Infectious agents
- - Maternal illnesses
- - Physical agents
- - Drug exposure
- - Chemical agents
- INFORMATION FOR PATIENTS