Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability.Most cases of Edwards syndrome occur due to problems during the formation of the reproductive cells or during early development. The rate of disease increases with the mothers age. Rarely, cases may be inherited from a persons parents. Occasionally, not all cells have the extra chromosome, known as mosaic trisomy, and symptoms in these cases may be less severe. An ultrasound during pregnancy can increase suspicion for the condition, which can be confirmed by amniocentesis.Treatment is supportive. After having one child with the condition, the risk of having a second is typically around one percent. It is the second-most common condition due to a third chromosome at birth, after Down syndrome.Edwards syndrome occurs in around 1 in 5,000 live births. Many of those affected die before birth. Some studies suggest that more babies that survive to birth are female. Survival beyond a year of life is around 5–10%. It is named after English geneticist John Hilton Edwards, who first described the syndrome in 1960.
Typically with other causes of chest pain, individuals will likely have radiating pain, shortness of breath, fever, a productive cough, nausea, dizziness, tachycardia, or hypotension.These conditions will be ruled out using tests such as X-rays, which will help assess for pneumonia, pneumothorax, lung mass, and other concerns. Other tests such as an electrocardiogram (ECG) can be performed to exclude infection, ischemia, and other conditions. A laboratory workup can rule out acute coronary syndrome, pulmonary embolism, and pneumonia. Costochondritis will yield normal results for these tests. Musculoskeletal
There are several musculoskeletal conditions similar to costochondritis that are often confused. One such condition includes Tietze syndrome, which is often confused with costochondritis due to the similarity in location and symptomatology. Typically, costochondritis is a more common condition that is not associated with any swelling, affects multiple joints (usually of the 2nd to 5th ribs), and is usually seen in individuals older than 40 years of age. Tietze syndrome is a rarer condition that usually has visible swelling, commonly affecting a single joint (usually of the 2nd or 3rd rib), and typically seen in individuals younger than 40 years of age.A similar condition known as slipping rib syndrome is also associated with chest pain and inflammation of the costal cartilage. Unlike costochondritis, the pain associated with slipping rib syndrome is often felt in the lower ribs, abdomen, and back, commonly affecting the interchondral junctions of the false 8th to 10th ribs. Costochondritis is typically experienced within the sternocostal junctions of the true 2nd to 5th ribs.