Russell-Silver Syndrome: causes, symptoms, treatment

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, others are congenital. One of these congenital diseases is the Russell-Silver syndrome.

Features of the disease

There are other popular names: the dwarfism of Silver-Russell, the SSR.

Russell A. and H. K. Silver are pediatricians who studied the prenatal delay in development.

Russell-Silver Syndrome is a congenital disease. Its main feature is the delay in physical development during pregnancy, in particular, the formation of the skeleton of the child is disrupted. Later, the closure of the fontanel can be observed later.

The reasons for inheritance are still unknown, in most cases there is no definite system.

This disease occurs in one person at 30 000. Sexual accessory for the development of the disease is not affected.

Causes of Russell-Silver Syndrome

The main cause of the disease are exclusively disorders at the level of genetics. And the form of inheritance is not periodic or systemic in nature.

Chromosomes 7 (10% of cases), 11, 15, 17, 18 suffer most often. 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 single-parent maternal disomy.

External symptoms of the disease

At birth, a child with Russell-Silver syndrome has a rather small mass, usually no more than 2500 g, although pregnancy is considered termless. The length is about 45 cm. With age, this problem is not solved and the growth gap is observed in adults (in women the growth is not more than 150 cm, for men slightly more than 150 cm). However, the mass fully corresponds to the age, in some cases even exceeds the norm.

The genitourinary system also undergoes changes , for example, there is cryptorchidism (a disorder in which the testicles are not located in their places), hypospadias (the urethra opens in an atypical place), 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 trunk, and the length of the legs and hands.

Russell-Silver syndrome (treatment of the disease can be learned from the article) and face. The part of the cranium in which the brain is located is enlarged in comparison with 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 dimensions of the lower jaw and mouth are significantly reduced. This is called pseudohydrocephaly. The lips are narrow, and the corners are slightly lowered (the "carp mouth" effect). The sky is high, in some cases can be with a cleft. The ears are protruding 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);
• Curving of the little finger.

Associated diseases of internal organs

In addition to external disorders, internal problems of the body are often observed. Russell-Silver Syndrome (symptoms associated with impaired appearance are indicated earlier) affect the functioning of the kidneys due to their incorrect formation (horseshoe shape, enlargement of the renal pelvis, tubal acidosis).

For patients regardless of their sex, early puberty is characteristic. In 30% of cases begins at the age of about 6 years. This is directly related to the fact that there is gonadotropic stimulation of the ovaries (the amount of sex hormones is significantly increased).

But the intellect is fully preserved.

Russell-Silver Syndrome: Diagnosis

This disease is diagnosed already in early childhood. This decision is made by the pediatrician who is observing the sick child. However, in addition to routine observation, various laboratory tests and tests are also conducted:

1. Determining the level of sugar in the blood. Very often children who are diagnosed with Russell-Silver Syndrome have a reduced level of glucose in their blood.
2. Testing for chromosomal abnormalities. In most cases, these problems are detected.
3. Determination of the amount of growth hormone. With this disease, there is a deficit.
4. Examination of the formation of the skeleton. This is required in order to exclude completely additional conditions, which in some cases may give a false positive result.

Features of treatment

The main rule of treatment: timely diagnosis. If you do not do it on time, the doctor can go on the wrong path and treat hydrocephalus, but these children do not have this disease.

In most cases, such patients are prescribed the intake of growth hormone 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 state of muscles;
• special education.

In the process of treatment, several specialists are simultaneously taking part:

• A geneticist who is able to identify the disease at the very beginning;
• Dietician or gastroenterologist, the main task of which is to develop a special diet that is aimed at increasing growth;
• An endocrinologist who prescribes growth hormone;
• psychologist.

Determine the effectiveness of the treatment performed by increasing the growth rate. With a properly designed scheme, in the first year of treatment, a result of 8 cm can be achieved.