Today, there are many different diseases that people rarely encounter. Among them - special gene mutations, which are rare. However, you still need to know about them. That is why now I want to talk about a problem like Rubinstein-Teibi syndrome.
Initially, you need to find out what the disease is. So, this syndrome in the literature was first described in distant 1963 by two doctors - Teibi and Rubinshane. In honor of which, however, and was named. It should be noted that this is not a disease as such, but a gene mutation that can be diagnosed already by the appearance of the patient. So, a person can see craniofacial features (anomalies), wide fingers. There is also mental retardation to some extent. Well, it should be noted that people with this syndrome have mutations in two genes:
- in the CREB gene located in the 16p13 band;
- in the EP300 gene located in the band 22q13.
About the causes of the disease
What should I look for first of all, considering the Rubinstein-Teibi syndrome? The reasons for this problem - this is what is important to tell. As mentioned above, mutations occur in the CREB gene, which leads to abnormal protein synthesis. In approximately 10% of patients, production of the CBP protein is partially or completely blocked. Other genes do not contribute to this process.
Large adjustment does not occur in more than 1% of patients. However, another gene is already involved, which is located in the 22q13 area.
Why such mutations arise, scientists can not say. So, they argue that this problem is not passed down from generation to generation (that is, sporadic). However, everything happens during fetal development. What exactly affects this - nutrition, the characteristics of the environment, bad habits or special diseases during the carrying of the baby, - scientists can not say yet.
On the manifestation of the disease
What indicators can indicate that a person has Rubinstein-Teibi syndrome? So, to diagnose doctors often succeeds immediately after the birth of the baby. And only on the appearance of the baby. Features that immediately make themselves felt:
- Wide nose.
- Extended thumb.
So, these are the most common external manifestations. However, there are other indicators that are less common and not in all patients.
About facial anomalies
As already mentioned above, if the patient has Rubinstein-Teibi syndrome, he will have special craniofacial signs. What then is in question?
- In 100% of cases, hyperplasia of the upper jaw is observed in patients. Feature: narrowed palate.
- Also, often, about 90% of patients see changes in the nose. It becomes like a beak.
- Approximately 84% of cases of the disease in children are low-set ears.
- And in 80% - a Mongoloid, that is a narrowed incision of the eyes.
- Almost 70% of patients have strabismus.
- A large anterior fontanelle is seen in about 40% of patients.
- And in some patients (in 35% of cases) there is such a problem as microcephaly (in such people the skull is much smaller in relation to the body).
Change of fingers
How else is Rubinstein-Teibi syndrome manifested? So, in patients this problem can be diagnosed only in the form of fingers.
- In 100% of cases, the thumbs of the arms and legs are enlarged.
- About 87% of patients have thumbs with so-called radial angles.
- Well, in most patients (and this is about 87%), all the fingers are slightly enlarged (if compared with a healthy person).
Changes in the growth and development of such people
Can help find out what the Rubinstein-Teibi syndrome looks like, photo. So, just by looking at a picture of people with this diagnosis, you can make some conclusions for yourself. However, such patients have not only external, but internal, no-one visible changes and mutations.
- These people have moderate mental retardation. So, the level of their IQ is approximately in the range of 30-60 (most often in the 51 area).
- Practically all patients (and this is 90% of patients) experience different speech difficulties.
- People with this mutation have a small growth. Men do not grow above 155 cm, women - 147 cm.
Anomalies in the work of the heart
How else does this symptom appear? So, in patients certain cardiac anomalies are seen.
It is worth noting that such changes are not so common, and often, they are observed in about 33% of patients.
Other symptoms, which are also often observed
There are other symptoms that can occur in people with this syndrome.
- Cryptorchidism. It occurs in almost 80% of men. This is the absence of testicles in the scrotum due to their non-dislocation.
- In 75% of patients, hirsutism is manifested. This increased hair growth is of a masculine type: on the legs, hands, chest.
- Also, many patients have cardiac arrhythmias.
It is necessary to tell about what doctors can diagnose according to what researches. So, the first appearance of the problem is always the appearance of the patient. However, on this basis alone, it is unreasonable to make diagnoses. In this case, doctors can use the following methods:
- A genetic test will be made. Doctors will analyze the SVR gene for the presence of mutations in it.
- You will need such studies as ultrasound, ECG, echocardiography.
- The FISH method is also used. This is a study that determines the sequence of human DNA.
- And, of course, you need a variety of neurological tests.
If the patient is diagnosed with Rubinstein-Teibi syndrome, he will definitely need treatment. However, there is no single option for selecting medicamental techniques and means. Everything will be individual. After all, the main thing here is the presence of certain symptoms. And this syndrome, by the way, manifests itself in all patients in different ways, as it has a wide variability.
So, in early childhood, the patient will need special physical therapy, so that the child does not lag behind in growth. And for the development of the brain will need to use special educational programs.
Taking medication, as well as surgical intervention, is needed only for special indications. This development of events is possible not in all cases of the development of the syndrome. Well, it should be noted that it is impossible to get rid of this problem. This is not a disease that can be cured with medication. So, medicines will help to cope only with certain symptoms.
Forecasts and complications
What else can be said about such a disease as Rubinstein-Teibi syndrome? Forecast and all sorts of complications - this also needs to be told. Among the difficulties, the maximum danger is caused by various disorders of the heart, arrhythmia, development of an irregular cardiac form. Ear infections can also occur constantly, hearing loss may develop. Often, patients also have scars on the skin.
- Difficulties with feeding children with this diagnosis lead to their physical underdevelopment.
- The main causes of infant mortality at an early age are respiratory infections. And they arise because of the malfunction of the heart.
- Concerning development: in early childhood it is delayed by approximately 5-6 months. At the age of 6, patients can learn to read, but overall development generally does not exceed the level of a first-grader.
Well, what is important to say, if we are considering such a problem as the Rubinstein-Teibi syndrome, is the duration of life. How many can such people live? So, physicians assert that the forecast is quite good, and the survival rate is high.