# What are birth defects, and how do they occur? Canonical page: https://clinicsjo.com/en/faq/what-are-birth-defects-and-how-do-they-occur Language: en Category: pediatrics Publisher: ClinicsJo Published: 2026-09-13T08:09:50.807Z Content updated: 2026-09-13T08:09:50.807Z Translation (ar): https://clinicsjo.com/ar/faq/what-are-birth-defects-and-how-do-they-occur Birth defects are health problems that occur while a baby is developing in the mother's womb, typically appearing during the first three months of pregnancy. These defects can affect the body's shape, function, or both. The severity of birth defects ranges from mild to severe, and their impact on a child's life depends significantly on the organ or body part affected and the severity of the defect [\[1\]](). ## How do birth defects occur? In many cases, the exact cause of birth defects is unknown. However, researchers believe that most birth defects result from a complex combination of genetic and environmental factors [\[1\]](). These factors include: - **Genetic factors:** Changes or mutations may occur in one or more genes, preventing them from working properly. In some cases, a gene or part of a gene may be missing. Chromosomal problems can also lead to birth defects, such as the presence of an extra chromosome, as in Down syndrome [\[1\]](). For example, genetic mutations can cause conditions like camptomelic dysplasia, which affects the skeletal system, the reproductive system, and other parts of the body [\[3\]](). - **Exposure to harmful substances:** Exposure to certain medications, chemicals, or toxic substances during pregnancy can lead to birth defects. For instance, alcohol consumption can cause fetal alcohol spectrum disorders [\[1\]](). Additionally, some medications, such as isotretinoin and thalidomide, can cause conditions like anophthalmia and microphthalmia if taken during pregnancy [\[2\]](). - **Infections during pregnancy:** Certain infections, such as the Zika virus, can cause serious brain defects if they affect the mother during pregnancy [\[1\]](). - **Nutritional deficiencies:** Not getting enough folic acid before and during pregnancy is a major factor in causing neural tube defects [\[1\]](). ## Common types of birth defects Birth defects vary greatly and can affect any part of the body. Some are apparent at birth, while others are discovered later. Common examples include: - **Structural problems:** Such as cleft lip or neural tube defects, which are easily visible [\[1\]](). - **Internal organ problems:** Such as congenital heart disease, which is usually detected using special tests [\[1\]](). - **Eye problems:** Such as anophthalmia (absence of one or both eyes) and microphthalmia (abnormally small eyes), which can cause vision loss or blindness [\[2\]](). - **Skeletal problems:** Such as camptomelic dysplasia, characterized by bowing of long bones in the legs, short legs, hip dislocation, and spinal abnormalities [\[3\]](). ## Diagnosis and early intervention Some birth defects can be diagnosed during pregnancy through prenatal screenings, such as ultrasound, computed tomography (CT) scans, and genetic testing [\[1\]](). This highlights the importance of regular prenatal care. Other defects may not be detected until after the baby is born through newborn screening tests [\[1\]](). In some cases, a defect may not be discovered until later in the child's life when symptoms appear [\[1\]](). Early intervention is essential to improve outcomes for children with birth defects, as treatment may include surgery, medication, assistive devices, physical therapy, and speech therapy [\[1\]](). To learn more about the importance of early screening and intervention, you can visit [Birth Defects: Early Screening and Intervention (Arabic)](). ## When to seek medical help? If you are pregnant or planning to become pregnant, it is essential to talk with your healthcare provider about any potential risk factors or concerns you have regarding birth defects. You should receive regular prenatal care and commit to taking 400 micrograms of folic acid daily, preferably starting at least one month before pregnancy [\[1\]](). Avoid alcohol, smoking, and drugs, and discuss any medications you are taking with your doctor [\[1\]](). If your child exhibits unusual symptoms after birth, such as difficulty breathing or obvious developmental problems, it is important to seek immediate medical evaluation. Specialized teams can help provide the coordinated care that children with birth defects need [\[1\]](). ## Medical references - [Birth Defects]() - [Anophthalmia and Microphthalmia]() - [Camptomelic dysplasia]() General health education; not a substitute for individualized clinical assessment. Citation URL: https://clinicsjo.com/en/faq/what-are-birth-defects-and-how-do-they-occur#answer