What rare diseases of children may be hidden under the beautiful face, and how to treat them?

I came across a news story, the content of which was probably like this: A little boy, with fair skin and beautiful big eyes, was admitted to Henan Maternal and Child Hospital, and his eyelashes were envied by many adults. The whole person looks like wearing heavy makeup, just like a porcelain doll. So what's wrong with this kid? It is understood that the little boy was sent to hospital for treatment by his family because of feeding difficulties. Now children are much smaller than other children of the same age. Not only that, but also his intelligence was affected. Later, according to the doctor's presumption, the child suffered from kabuki face syndrome, which is an extremely rare disease.

There was a Spanish child before, and his symptoms were more serious than that of this little boy in Henan. Because of his westernized face and the influence of illness, his face is more like the effect of heavy makeup. In China, it is not the first case found in Henan Province. The first case was found in Chongqing in 2009. He is also a little boy, only 4 years old. Later, another case was found in Heilongjiang Province. The patient is a 20-year-old girl. The reason for finding this disease is that the girl thinks she has a strange face, so she wants to change her face through plastic surgery, but she is told that she has this rare disease.

If you want to trace the history of this rare disease, you can actually trace it back to Japan at the earliest. This disease is named "kabuki face" because it was first seen in Japan, and it is more similar to the appearance of Japanese kabuki after heavy makeup. In Japan, the incidence of this rare disease is about 32,000:1,while in New Zealand it is relatively small, about 86,000:1,and the proportion in Australia is almost close to this.

What are the physiological manifestations of this disease? The most obvious is the change of face shape, revealing thick eyebrows and long curly eyelashes. At the same time, the IQ development of patients is much slower than that of normal people, and so is the physical development. Of course, there are some special cases, such as the second case discovered by China. The 20-year-old girl has normal development and IQ. The only exception is that there is no skin texture, such as no fingerprints.

As for why patients get this disease, there is no way to prove it at present. Some scholars have shown that this disease is a hereditary metabolic disease with extremely low incidence, and some scholars believe that it is caused by the genetic abnormality of the patient's chromosome.

But no matter what the reason is, pregnant mothers should pay attention to it, and they must pay attention to doing more tests during pregnancy, such as Tang screening. In the face of some high-risk diseases, pregnant mothers can try if the attending doctor suggests amniocentesis or DNA abnormality.

However, it should also be noted that not all diseases can be detected, and pregnant mothers should be fully psychologically prepared. Of course, don't worry too much. After all, the incidence is extremely low. I believe our children are lucky!

To tell the truth, this kind of child is really distressing. God opened a window for them, but closed the door to the world. Obviously, it has "peerless beauty", but it is just an "empty skin". What is hidden under the skin is the truth that makes people feel distressed. Son, I'd rather you didn't look so good. Good health is your mother's biggest requirement.