Is it too sick for a child to look "too good-looking"? After the doctor stated the cause, his family could not accept it

Parents all hope that their babies are lively, cute and beautiful. We usually walk on the road to see beautiful-looking children, and we can’t help complimenting a few words, but treasure moms may not know that some children look good, are outstanding in the crowd, and may be sick By the way, the incidence of this disease is relatively low, and it is difficult to find it early, do you know what the disease is?

A few days ago, Bangma heard about a case like this. It was said that when a child was born, it was no different from other children. However, the older the child, the more different from other children. At first, the child's appearance has changed a lot. Compared with other children, it looks like a lot of heavy makeup. Parents do not care about these situations. It's a good thing to think that the child looks good.

But as time goes by, the child's balance ability has not grown at all. The child of the same age has learned to run. This child can't even sit stably. Sometimes he puts the child on the sofa, and the child sits on his own. It was crooked. Now, the child's parents couldn't sit still, and immediately took the child to the hospital for examination. This examination really hurt the family and said that it was unacceptable.

It turns out that the child has a disease called "Kabuki Syndrome". Some little knowledge about this disease will be described below.

1. What kind of disease is this?

The clinical manifestations of Kabuki Syndrome are: special appearance, obstacles to bone development, stunted growth of height, appearance of skin texture and mental retardation.

The world’s first patient with Kabuki syndrome appeared in the Japanese because the child’s appearance changed and his face was painted with heavy makeup, especially the lower eyelid valgus, which is very similar to Japanese Kabuki, Kabuki syndrome is derived from this.

2. What are the causes of this disease?

Experts stated that the cause of this disease is caused by chromosomal lesions, which is the genetic problem we usually say. The specific cause is that pregnant women use drugs that cause fetal malformation at 6 to 9 weeks of the fetus, or During this period, a viral infection occurred. The onset date of this disease is generally around 8 to 12 weeks, at which time the fetal body will change.

3. Is this disease easy to find? Is it good treatment?

Kabuki syndrome is difficult to find in newborns, unless it is an old doctor with many years of clinical experience who uses his own experience to find the signs of the disease in the child’s subtle changes, and there is no reliable inspection equipment for this. Diagnosis of disease, usually after the child grows up, the disease can only be confirmed after the disease becomes obvious.

It is also difficult to find signs of this disease during the prenatal screening, because the genetics of the medical community has not yet reached this point, which has become the biggest obstacle to prevent Kabuki syndrome.

Regarding the treatment of Kabuki Syndrome: Since this disease is discovered relatively late, it is usually treated according to the shape of the child during treatment, such as facial deformities, skin diseases, urinary system disorders or cardiovascular diseases Targeted treatment, but the success rate of treatment is not high. At present, only a 14-year-old girl in the world has obtained obvious results after receiving treatment, and can already work. It is the longest survival time at present. In patients with Kabuki syndrome, other patients undergoing treatment generally die from postoperative infection.

Although this disease is very terrible, you don’t have to worry about it, because the incidence of this disease is very low, about 1:32000, don’t worry too much!