Modern medicine knows a lot of diseases. Some of them have been studied quite well; groups of scientists have been unsuccessfully working on the causes and methods of treating others. Some diseases are acquired, while others are congenital. One of these congenital diseases is Russell-Silver syndrome.
Features of the disease
There are other popular names: the dwarfism of Silver-Russell, the Soviet Socialist Republic.
Russell A. and H.K. Silver are pediatricians who studied prenatal developmental delays.
Russell-Silver Syndrome is a congenital disease. Its main feature is a delay in physical development during pregnancy, in particular, the formation of the skeleton of the child is disrupted. In the future, late closure of the fontanel may be observed.
The reasons for the inheritance are still unknown, in most cases there is no specific system.
This disease occurs in one person in 30,000. Gender does not affect the development of the disease.
Causes of Russell-Silver Syndrome
The main cause of the disease is solely genetic disorders. Moreover, the form of inheritance is not periodic or systemic.
Chromosomes 7 (10% of cases), 11, 15, 17, 18 are most often affected. It is these chromosomes that are responsible for human growth. In most cases, this is due to the fact that the child inherits two copies of the chromosome from the mother. This effect is called homogenous maternal dysomy.
External symptoms of the disease
At birth, a child with Russell-Silver syndrome has a fairly small mass, usually not more than 2500 g, although pregnancy is considered full-term. In this case, the length is about 45 cm. This problem is not solved with age and growth lag is observed in adults as well (in women, growth is not more than 150 cm, in men a little more than 150 cm). However, the mass is fully consistent with age, in some cases even exceeds the norm.
The genitourinary system also undergoes changes , for example, cryptorchidism (a violation in which the testicles are not in place), hypospadias (the urethra opens in an atypical place for this), hypoplasia of the penis and scrotum (underdevelopment).
Externally, Russell-Silver syndrome is also observed. It is expressed in the asymmetry of the body. It affects both the face and the body, and the length of the legs and arms.
Affects Russell-Silver syndrome (treatment of the disease can be found in the article) and on the face. The part of the cranial box in which the brain is located is enlarged compared to the front part, and the increase is clearly disproportionate. The shape of the face resembles a triangle in which the forehead is convex, and the size of the lower jaw and mouth are significantly reduced. This is called pseudohydrocephalus. The lips are narrow, and the corners are slightly lowered (effect "carp mouth"). The sky is high, in some cases it may be cleft. The ears are bulging in most cases.
Among the accompanying external symptoms can be identified:
- violation of the formation of subcutaneous fat;
- narrow chest;
- lordosis in the lumbar region (convexity of the spinal column forward);
- curvature of the little finger.
Concomitant diseases of the internal organs
In addition to external disorders, internal problems of the body are often observed. Russell-Silver syndrome (symptoms associated with impaired appearance, indicated earlier) affect the functioning of the kidneys due to their irregular formation (horseshoe-shaped, enlargement of the renal pelvis, tubular acidosis).
Patients, regardless of their gender, are characterized by early puberty. In 30% of cases, it begins at the age of about 6 years. This is directly related to the fact that gonadotropic stimulation of the ovaries occurs (the amount of sex hormones is significantly increased).
But the intellect is fully preserved.
Russell-Silver Syndrome: Diagnosis
This disease is diagnosed in early childhood. Such a decision is made by a pediatrician observing a sick child. However, in addition to routine observation, various laboratory tests and tests are also carried out:
- Determination of blood sugar. Very often, children who are diagnosed with Russell-Silver Syndrome have a low blood glucose level.
- Testing for chromosomal abnormalities. In most cases, these problems are detected.
- Determining the amount of growth hormone. With this disease, a deficiency is observed.
- Inspection of the formation of the skeleton. This is required in order to exclude completely additional conditions, which in some cases can give a false positive result.
Treatment features
The main rule of treatment: timely diagnosis. If you do not do this on time, the doctor may go the wrong way and deal with the treatment of hydrocephalus, but such children do not have this disease.
In most cases, growth hormone is prescribed to such patients according to a certain scheme, which is developed by the attending physician.
In addition, additional methods are often used:
- physiotherapy, which is aimed at improving the condition of muscles;
- special education.
In the process of treatment, several specialists are simultaneously taken:
- geneticist who is able to detect this disease at the very beginning;
- a nutritionist or gastroenterologist whose main task is to develop a special diet that is aimed at increasing growth;
- an endocrinologist who prescribes growth hormone;
- psychologist.
The effectiveness of the treatment can be determined by increasing the growth rate. With a properly designed scheme, in the first year of treatment, you can achieve a result of 8 cm.