Congenital Anomalies - Abu Dhabi
Congenital anomalies, also known as birth defects or congenital disorders, are structural or functional abnormalities present at birth. These anomalies can affect various parts of the body, including organs, limbs, and systems. They may result from genetic factors, environmental exposures during pregnancy, or a combination of both.
Congenital anomalies can vary widely in their severity, ranging from mild conditions that have minimal impact on a person's health to severe disabilities that require ongoing medical intervention. Some common examples of congenital anomalies include:
- 1. Structural anomalies: These involve abnormalities in the structure or formation of body parts. Examples include cleft lip and palate, heart defects, neural tube defects (e.g., spina bifida), limb abnormalities, and facial malformations.
- 2. Chromosomal anomalies: These result from alterations in the number or structure of chromosomes. Down syndrome (trisomy 21) is the most well-known chromosomal anomaly, but there are other conditions caused by chromosomal abnormalities, such as Turner syndrome (monosomy X) and Klinefelter syndrome (additional X chromosome in males).
- 3. Metabolic anomalies: These involve disruptions in the body's ability to process or utilize certain substances. Examples include phenylketonuria (PKU), a metabolic disorder that affects the breakdown of the amino acid phenylalanine, and galactosemia, which impairs the metabolism of galactose, a sugar found in milk.
- 4. Functional anomalies: These are disorders that affect the function of specific body systems. Examples include congenital heart defects, hearing loss, vision impairment, and gastrointestinal abnormalities.
The causes of congenital anomalies can be multifactorial, involving a combination of genetic and environmental factors. Genetic factors may include inherited gene mutations or chromosomal abnormalities, while environmental factors can include exposure to teratogenic substances (such as certain medications, alcohol, tobacco, or infections) during pregnancy.
Diagnosis and management of congenital anomalies vary depending on the specific condition. Some anomalies can be detected prenatally through ultrasound or genetic testing, allowing for early intervention and planning. Treatment options may include surgery, medications, assistive devices, therapies, or a combination of these approaches.
