Understanding Marfan Syndrome: Causes, Symptoms, and Treatment

2023-09-08 12:42:19

There is a girl in China who grew to 170 centimeters tall at the age of 13. She was diagnosed with “genius disease”. (Image/reproduced from photoAC)

Under normal circumstances, the ratio of height to arm length is 1:1. If your hands are longer than your body when stretched out, be careful that you may suffer from “Marfan syndrome.” The Children’s Hospital of Zhejiang University School of Medicine in China treats many children with scoliosis during the summer vacation. Among them, a 13-year-old girl is the most special. Because she is over 170 centimeters tall, the examination revealed that she has “genius disease”.

According to “Metropolitan Express”, the girl’s spine was skewed when she stood 4 years ago. She went to the hospital for examination and was diagnosed with scoliosis. Conservative treatment was performed at that time, but the effect was not good. Therefore, her parents took her to the Orthopedics Department of Zhejiang University Children’s Hospital for surgery, but an unexpected accident occurred. They discovered a big problem, that is, her limbs were slender than those of people her age, and her hands drooped even higher than her knees. Her family thought she was just growing fast and didn’t pay much attention.

However, the doctor suspected that it might be Marfan syndrome. As expected, genetic testing showed that he had the FBN1 gene, and there were also cardiovascular problems, including widening of the aortic sinus, thickening of the mitral valve, prolapse, and mild to moderate regurgitation. It was good. After surgery, the desired results were achieved.

The girl suffers from Marfan syndrome. (Picture/reproduced from City Express)

The doctor shared a method for self-detection of Marfan syndrome, asking the child to wrap the thumb and make a fist. If the thumb cannot be completely wrapped, but the front joint is exposed, special attention should be paid and it is recommended to go to the hospital for further examination.

It is understood that Marfan syndrome, also known as “genius disease”, is a hereditary connective tissue disease. The most obvious characteristics are that the height is higher than that of ordinary people, the limbs, fingers, and toes are slender and asymmetrical, and the arms are stretched out between the fingers. Larger than body length, hands hanging down above the knees, upper body longer than lower body, the incidence rate is one in 100,000 for ordinary people. Patients may have vascular system abnormalities, scoliosis and other skeletal abnormalities. The average life expectancy is only more than 30 years old. The main cause of death is cardiopulmonary failure caused by the disease.

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