Can only undergo surgery, unexpectedly it is a "genius disease". Her parents thought she was growing fast and didn't care. A 13-year-old girl is over 1.7 meters tall
Arm extension length exceeds height
It is possible that you have Marfan syndrome
Have you noticed the ratio between your height and arm length? Under normal circumstances, the ratio of height to arm length for an average person is about 1:1, but this does not include the ratio of arm length to height for certain athletes, such as NBA players, professional boxers, swimmers, etc.
One of them is the famous American swimmer Phelps, who stands 1.93 meters tall but has an arm span of 2.01 meters. He once said, "If your hands are stretched out longer than your body, then you are likely to have Marfan syndrome.". Phelps suspects that he may have Marfan syndrome.
What is Marfan syndrome? There are several alternative names for this disease: it is both known as "genius disease" and the group suffering from Marfan syndrome is also known as "Spider Man". According to Yang Rulai, chief physician of the Genetics and Metabolism Department of Zhejiang University Children's Hospital, Mafan syndrome is an inherited connective tissue disease, which is autosomal dominant inheritance. The incidence rate of the general population is about 1/100000, which is a rare disease.
The most prominent feature of patients with Marfan syndrome is their height significantly exceeding that of the average person, with slender and uneven limbs, fingers, and toes, outstretched arms with fingertips greater than their body length, hands hanging over the knees, and the upper body being longer than the lower body. This is also why the Marfan syndrome population is known as the "Spider Man".
Director Yang also mentioned that patients with Marfan syndrome often have skeletal abnormalities such as cardiovascular system abnormalities and scoliosis. The average natural survival life of patients with Marfan syndrome is only over 30 years old, and the main causes of death are cardiovascular disease and cardiovascular failure caused by spinal deformities.
It is precisely because the fingers and limbs of patients with Marfan's syndrome are relatively long that they are particularly suitable for basketball and volleyball sports, and some basketball and volleyball players are also patients with Marfan's syndrome.
The most well-known is American female volleyball player Flo Heyman, who is known as one of the "world's three spikers". She passed away suddenly in a game at the age of only 31. At first, she was believed to have died of heart disease, but during an autopsy, it was discovered that the cause of her death was aortic rupture and she was diagnosed with Marfan syndrome.
A 13-year-old girl with a height exceeding 1.7 meters
![Can only undergo surgery, unexpectedly it is a "genius disease". Her parents thought she was growing fast and didn't care. A 13-year-old girl is over 1.7 meters tall](https://a5qu.com/upload/images/eee13f8c8849a1ff9fd9250cdee8e63d.jpg)
Scoliosis for four years
Confirmed as Marfan syndrome
During the summer, the orthopedics department of Zhejiang University Children's Hospital treated many children with scoliosis. Among them, 13-year-old Coco appears particularly special. At the age of 13, she has already grown over 1.7 meters tall, and her family has been ignoring her rapid growth.
Four years ago, Coco developed spinal deformity while standing. He was taken to a local hospital for examination and found to have scoliosis. At that time, braces were used for conservative treatment. Later, the results were not satisfactory, and this time Coco's parents specially brought their child to the orthopedic department of Zhejiang University Children's Hospital for surgery.
Unexpectedly, during this surgical trip, a major problem was discovered: Coco's limbs were much longer than those of his peers, and his hands drooped even beyond his knees. Chen Wenhao, the deputy director of orthopedics, currently suspects that Coco is highly likely to have Marfan syndrome. Sure enough, through genetic testing, it was found that Coco indeed carried the FBN1 gene and was diagnosed with Marfan syndrome. At the same time, there were also cardiovascular problems such as widening of the aortic sinus, thickening of the mitral valve, prolapse with mild to moderate regurgitation.
Director Chen stated that the skeletal development of children with Marfan syndrome is abnormal, which is different from typical adolescent idiopathic scoliosis and congenital spinal deformities, which increases the difficulty of corrective surgery. However, fortunately, the surgical results were very good and achieved the expected results.
Because Coco's parents had previously overlooked their child's condition, Director Chen also pointed out a small trick for self testing Marfan's syndrome: have the child wrap their thumb around and clench their fists. If the thumb cannot be completely wrapped and the front joint is exposed, parents should be careful and suggest going to the hospital for further examination.
Comparison images before and after Cocoa surgery provided by the hospital
Promotion in Zhejiang Province
Genetic screening for genetic diseases in newborns
![Can only undergo surgery, unexpectedly it is a "genius disease". Her parents thought she was growing fast and didn't care. A 13-year-old girl is over 1.7 meters tall](https://a5qu.com/upload/images/100f411908646ea2b874136232c9d032.jpg)
Early detection and diagnosis are of great significance
Many people are concerned: Will Marfan syndrome be inherited? Director Yang stated that Marfan syndrome is an autosomal dominant genetic disease, and when an individual has a pathogenic gene, it can be diagnosed as a patient. That is to say, if the parents suffer from Marfan syndrome, the probability of the child developing Marfan syndrome will be greatly increased. 25% -30% of cases of Marfan syndrome are caused by new mutations in the child's genes.
International community experts in Marfan syndrome estimate that nearly half of Marfan syndrome patients are unaware of their condition.
Director Yang pointed out that certain features of Marfan syndrome, such as those affecting the heart and blood vessels, bones, or joints, will worsen over time. Therefore, it is crucial for individuals with Marfan syndrome and related conditions to receive accurate early diagnosis and treatment. Once it worsens, they may face a high risk of potentially life-threatening complications. The earlier you start treatment, the better the effect will be.
Conducting genetic testing on patients and family members with hereditary Marfan syndrome, identifying mutation gene loci, early detection, and targeted treatment are of great significance for guiding patients and their families in marriage and childbirth, as well as prenatal diagnosis and health management of their offspring.
Last year, Zhejiang Province carried out genetic screening for newborn genetic diseases, which is of great significance. This screening project can achieve early detection, diagnosis, and treatment for more genetic diseases, and the prognosis will be better.