What are 4 abnormalities of Edwards syndrome?
Edwards Syndrome, also referred to as Trisomy 18, is a genetic disorder that is typically identified in a fetus during pregnancy or shortly after birth. It is caused by an additional chromosome in the 18th pair, resulting in a total of 69 chromosomes instead of the usual 46. The condition is incredibly rare, and the majority of infants born with Edwards Syndrome pass away within the first few weeks of life. This is due to a variety of abnormalities, the most common of which include low birth weight, distinctive facial features, heart defects, and developmental delays.
Low birth weight is one of the most common abnormalities of Edwards Syndrome, and is seen in the majority of cases. Babies born with Trisomy 18 typically weigh less than five and a half pounds, and in some cases are born prematurely. This is because the extra chromosome causes difficulty in growth, making it difficult for the baby to grow and develop normally during the last few months of pregnancy.
Distinctive facial features are also a common abnormality for Edwards Syndrome. Babies typically have a small head and a receding chin, as well as almond-shaped eyes and a thin upper lip. They may also have a small nose and clenched fists, and in some cases have an abnormal number of fingers and toes.
Heart defects are very common in babies with Edwards Syndrome, with 80-90% of cases being affected. The defects can range from minor to severe, and can include atrial and ventricular septal defects, patent ductus arteriosus, and coarctation of the aorta. All of these defects can lead to further complications, and in some cases can even be life-threatening.
Finally, developmental delays are also a common abnormality of Edwards Syndrome. Babies with Trisomy 18 are typically unable to reach the same milestones as typically developing babies, and are often unable to sit up, roll over, or crawl. They may also have difficulty speaking, and have difficulty swallowing and feeding. Many babies with Edwards Syndrome require special care and support in order to reach their full potential.
Overall, Edwards Syndrome is a rare genetic disorder that is caused by an additional chromosome in the 18th pair. While the majority of infants born with the condition pass away within a few weeks, those that survive are affected by a variety of abnormalities, including low birth weight, distinctive facial features, heart defects, and developmental delays. With the right care and support, those affected by Edwards Syndrome can still reach their full potential.