The syndrome Di dzorz

DiGeorge Syndrome (Velocardiofacial Syndrome; Chromosome 22q11 Deletion Syndrome)

Description syndrome Di Giorgi

The syndrome Di dzorz – a rare genetic disorder, is present at birth. It is a genetic disease that can cause a wide range of symptoms and health problems. Some patients may have mild symptoms, while other symptoms may be severe. People with full syndrome Di Giorgi no thymus or parathyroid glands. The thymus plays an important role in the immune system, and parathyroid glands control the level of calcium in the blood and tissues of the body.

Reasons syndrome Di Giorgi

Syndrome Di Giorgi is the lack of several genes, that control the development of the thymus gland (thymus) and associated glands.

Risk Factors syndrome Di Giorgi

DiGeorge syndrome in some families can be inherited, but the majority of cases, the disease is not related to heredity.

Symptoms of the syndrome Di Giorgi

DiGeorge Syndrome Symptoms are present at birth and do not worsen with age. They may include:

• Long face;
• Almond-shaped eyes;
• Wide nose;
• Small ears;
• Small head;
• Cleft palate.

Other symptoms may include:

• Weak muscles;
• Low growth;
• Tapered or too wide fingers;
• Difficulties in learning.

DiGeorge syndrome may also be associated with other health problems, such as:

• Immune deficiency, which leads to the danger of infection;
• Heart defects;
• Bradygenesis;
• The increased likelihood of mental disorders;
• Gipoparatireoz;
• Sometimes abnormalities include structural brain defects, scoliosis, umbilical or inguinal hernia, anomalies of the kidney, anogenitalynыe anomalies, eye abnormalities, and thyroid problems.

Diagnosis of the syndrome Di Giorgi

The doctor will ask about your symptoms and medical history, and perform a physical examination. If a child has certain heart diseases or other symptoms, DiGeorge syndrome associated with, They can be assigned to genetic tests.

Your doctor may order other tests, which allows to determine, What problems can cause DiGeorge syndrome. Tests may include:

• Blood tests – to find the problem of the immune system and rule out other diseases;
• Chest X-ray – to detect thymus;
• Echocardiography – the study of the heart.

Treatment syndrome Di Giorgi

Treatment is prescribed depending on the symptoms. Some treatments syndrome Di Giorgi include:

Maintenance of the immune system

Some immune system problems can be very serious and require immediate treatment.

If the thymus is absent, It can be made to graft thymus. Bone marrow transplant may also help to boost the immune system. Nonetheless, for these procedures, there are risks, which should be taken into account.

Other methods include monitoring the immune system and the treatment of infections.

Treatment of Heart Defects

Heart defects can lead to poor growth and development of the child.

Some heart defects can be repaired surgically. Heart surgery is often done in the first year of life. Other heart defects need to monitor lifelong, especially paying attention to them in the first year of life.

Treatment volchyey pastes

Operation or series of operations may be needed for the treatment of cleft palate. Also, a child can work with a speech therapist. The therapist will help the child with feeding and speech correction delays.

Control hypoparathyroidism

Missing parathyroid glands may affect the level of calcium in the body and blood. Supplements of calcium and vitamin D to help compensate for the absence of the parathyroid glands. A diet low in phosphorus may improve health. Talk with your doctor or nutritionist about the changes in the diet of the child.

Help at an early age

To help your child, Therapy can be used in the early stages of development. The following procedures may be used:

• Speech Therapy – to fix the problems of feeding and speech development;
• Occupational therapy – to assist in the training of daily living skills and personal hygiene;
• Physiotherapy – for the treatment of physical problems;
• Educational programs – to help your child reach the respective stages of development;
• Psychiatry – to solve the psychological problems.

Generally, The earlier use of these therapies, the better the end result.

Prevention syndrome Di Giorgi

Currently there is no way, helps prevent syndrome Di Giorgi.