Today, there are many different diseases that people rarely encounter. Among them are special gene mutations that occur infrequently. However, you still need to know about them. That is why now I want to talk about such a problem as Rubinstein-Teibi syndrome.
A bit of history
Initially, you need to find out what this disease is. So, this syndrome in the literature was first described in the distant 1963 by two doctors - Teibi and Rubinshane. In whose honor, however, he was named. It is worth noting that this is not a disease as such, but a kind of gene mutation that can be diagnosed already by the appearance of the patient. So, a person has craniofacial features (anomalies), wide fingers. Mental retardation is also present to one degree or another. Well, it should be noted that people with this syndrome have mutations in two genes:
- in the CREB gene located in band 16p13;
- in the EP300 gene located in band 22q13.
About the causes of the disease
What should I pay attention to first of all when considering Rubinstein-Tabi syndrome? The causes of this problem are important to talk about. As mentioned above, mutations occur in the CREB gene, which leads to abnormal protein synthesis. In approximately 10% of patients, CBP protein production is partially or completely blocked. Other genes do not contribute to this process.
Big changes are found in no more than 1% of patients. However, another gene is already involved, which is located in the 22q13 region.
Why precisely such mutations arise, scientists can not say. So, they argue that this problem is not transmitted from generation to generation (that is, it is sporadic). However, everything happens during fetal development. So what exactly does this affect — nutrition, environmental features, bad habits, or special illnesses while carrying the baby — scientists still cannot say.
About the manifestation of the disease
What indicators may indicate that a person has Rubinstein-Teibi syndrome? So, doctors often manage to diagnose immediately after the birth of the baby. And only in 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 a patient has Rubinstein-Teibi syndrome, he will have special craniofacial signs. What is it about then?
- In 100% of cases, patients have hyperplasia of the upper jaw. Feature: narrowed palate.
- Also often, in about 90% of patients, nose changes are visible. It becomes like a beak.
- In approximately 84% of cases of the disease in children, ears are set low.
- And in 80% - Mongoloid, that is, a narrowed section of the eyes.
- Almost 70% of patients have strabismus.
- A large anterior fontanel is visible in approximately 40% of patients.
- And some patients (in 35% of cases) have such a problem as microcephaly (such people have a much smaller skull in relation to the body).
Finger change
How else is Rubinstein-Teibi syndrome manifested? So, in patients this problem can be diagnosed only by the shape of the fingers.
- In 100% of cases, patients have extended thumbs and toes.
- About 87% of patients have thumbs with the so-called radial angles.
- Well, in most patients (and this is about 87%), all fingers are slightly extended (when compared with a healthy person).
Changes in the growth and development of such people
It may help to find out what Rubinstein-Teibi syndrome looks like, photo. So, just looking at the picture of people with this diagnosis, you can draw certain conclusions for yourself. However, such patients have not only external, but also internal changes that are not visible to anyone, and mutations.
- Such people have moderate mental retardation. So, their IQ level is about 30-60 (most often around 51).
- Almost all patients (and this is 90% of patients) experience various speech difficulties.
- People with this mutation are short. Men do not grow above 155 cm, women - 147 cm.
Anomalies in the work of the heart
How else is this symptom manifested? So, in patients certain cardiac abnormalities are visible.
- Such people have an open arterial duct, as well as various defects of the interventricular septum.
- Often diagnosed with aortic coarctation, abnormalities of the aortic valve, atrial septal defects.
It is worth noting that such changes are not so common, they are observed in about 33% of patients.
Other symptoms that are also often observed
There are other symptoms that can occur in people with this syndrome.
- Cryptorchidism. It appears in almost 80% of men. This is the absence of testicles in the scrotum due to their undescended.
- 75% of patients show hirsutism. This increased hair growth is precisely in the male type: on the legs, arms, chest.
- Also, many patients have cardiac arrhythmias.
Diagnostics
It is imperative to talk about according to what studies doctors can make this diagnosis. So, the first call to finding a problem is always the appearance of the patient. However, for this reason alone, it is unreasonable to make diagnoses. In this case, doctors can use the following methods:
- A genetic test will definitely be done. Doctors will analyze the CBP gene for the presence of mutations in it.
- Such studies as ultrasound, ECG, echocardiography will be required.
- Also use the FISH method. This is a study that determines the sequence of human DNA.
- Well, of course, you will need various neurological tests.
Treatment
If a patient is diagnosed with Rubinstein-Teibi syndrome, he will definitely need treatment. However, there is no single option for the selection of medical methods and tools. Everything will be individually. 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, since it has wide variability.
So, in early childhood, the patient will need special physical therapy so that the child is not much stunted. And for the development of the brain will need to use special educational programs.
Taking medications, as well as surgical intervention, are needed only for special indications. Such a development of events is not possible 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, medications will help to cope only with certain symptoms.
Forecasts and Complications
What else can be said about such an ailment as Rubinstein-Teibi syndrome? Forecast and all kinds of complications - this also needs to be told. Among the difficulties, the greatest danger is caused by various disorders of the heart, arrhythmia, the development of an irregular heart shape. Ear infections can also occur constantly, and hearing loss can develop. Often, patients also have scars on the skin.
- Difficulties with feeding children with this diagnosis leads to their physical underdevelopment.
- The main causes of infant mortality at a very young age are respiratory infections. And they arise due to the malfunctioning of the heart.
- Regarding development: in early childhood, it lingers for about 5-6 months. At the age of 6 years, patients can learn to read, but the overall development generally does not exceed the level of a first grader.
Well, what is it important to say, if such a problem as Rubinstein-Teibi syndrome is considered - life expectancy. How long can such people live? So, doctors say that the prognosis is quite good, and the survival rate is high.