Digeorge syndrome

Digeorge syndrome's disease overview

Digeorge syndrome , more accurate by a wider term - 22Q11.2 removal syndrome, also known as chromosomal mutation No. 22; A disorder caused when a small part of the 22 chromosome is lost. This removal leads to poor development of some body systems.

22Q11.2 deletion terms include terms that have been considered separate conditions, including Digeorge syndrome, Velocardiofacial syndrome and other disorders with the same genetic cause, although the characteristics Can change slightly.

Medical problems are often related to 22Q11.2 removal syndrome including heart defects, poor immune system function, cleft palate, complications related to low and slow blood calcium levels in blood. Develop with behavioral and emotional problems.

The number and severity of the symptoms related to different 22Q11.2 deletion syndrome. However, most people with this syndrome need treatment from experts in many fields. Known more accurately by a wider term - 22Q11.2 removal syndrome, also known as chromosome mutations No. 22; A disorder caused when a small part of the 22 chromosome is lost. This removal leads to poor development of some body systems.

22Q11.2 deletion terms include terms that have been considered separate conditions, including Digeorge syndrome, Velocardiofacial syndrome and other disorders with the same genetic cause, although the characteristics Can change slightly.

Medical problems are often related to 22Q11.2 removal syndrome including heart defects, poor immune system function, cleft palate, complications related to low and slow blood calcium levels in blood. Develop with behavioral and emotional problems.

The number and severity of the symptoms related to different 22Q11.2 deletion syndrome. However, most people with this syndrome need treatment from experts in many fields.

Causes of Digeorge syndrome's disease

  • Digeorge syndrome caused by the problem of loss of chromosomes 22Q11. The segmental loss syndrome is a small piece of genetic material missing in a human chromosome. fertilization. This may happen accidentally when sperm and eggs are created. It is not the result of anything that happens before or during pregnancy. It is very small with other children. Know I have sickness.

    • Symptoms of Digeorge syndrome's disease

    Signs and symptoms of Digeorge syndrome (Delete syndrome 22Q11.2) may vary in type and severity, depending on which body system is affected and the severity of the severity Disability. Some signs of Digeorge syndrome may be clear at birth, but other signs may not appear until later during pregnancy or children.

    Signs and symptoms may include some of the following combinations:

  • whispered heart and slightly blue skin due to oxygen -rich blood circulation (cyanosis) as a result of regular heart defects
  • Some of the face characteristics, such as face, such as Like underdeveloped chin, low ears, wide eyes or narrow grooves in the upper lip
  • a space on the palate (open palate) or other problems with the palate
  • Slow growth
  • hard to feed, do not gain weight or gastrointestinal problems
  • Respiratory issues
  • poor muscle
  • Delayed development, such as the delay in rolling, sitting up or other important milestones of babies
    • In voice
  • delayed or disabled study
  • The problem of behavior

    • People at risk for Digeorge syndrome's disease

    The risk of Digeorge syndrome of Digeorge often occurs in pregnant mothers transmitted from affected parents to children showing signs of congenital fetal, and children born in themselves. Chromosome gene number 22.

    Prevention of Digeorge syndrome's disease

    In some cases, immunosorge syndrome can be transmitted from affected parents to children. If you are worried about family history with 22Q11.2 removal syndrome or if you have a child with this syndrome, you may want to consult a physician specializing in genetic disorders (geneticist) or trying Genetic problem for help in future pregnancy planning.

    Having children with Digeorge syndrome (the syndrome of section 22Q11.2) is a big challenge.  Facing many issues of treatment, managing their own expectations and meeting children's needs. Ask health workers about educational documents, support groups and other resources for parents of children with loss of loss syndrome 22Q11.2.

    Diagnostic measures for Digeorge syndrome's disease

    Diagnostic Digeorge syndrome (Syndrome of section 22Q11.2) is mainly based on laboratory tests to detect chromosomal loss 22. The doctor may request this test if any :

  • A combination of issues or health status related to the loss syndrome 22Q11.2 Demonstration of section 22Q11.2
  • Heart defect: ventricular ventricular, arterial body, quartet fallot
  • Themorian disability: immunodeficiency, easy infection -Armor of the armor leads to reduction of calcium and phosphorus in the blood,
  • face disability: split the jaw and lip slot, long face, small and low ears, 2 eyes apart, eyes, lips, lips Thin and short grooves. About hearing, visual reduction, poor renal function, low physical condition
  • Older children and adults: depression, schizophrenia

    • in one in one The number of cases, children may have a combination of many conditions related to the loss of segment 22Q11.2, but the test does not show the loss of the chromosome 22. Although these cases are a challenge In the diagnosis, the coordination of care to solve all health problems, development or relatively similar acts.

    Digeorge syndrome's disease treatments

    Although there is no cure for Digeorge syndrome (the syndrome of section 22Q11.2), common treatments to overcome serious problems such as heart defects or cleft palate. Other health problems and development issues, mental health or behaviors can be solved or monitored when necessary.

    Treatment and therapeutic for the loss of segment 22Q11.2 may include the following types of interventions:

  • The parathyroid failure is usually supplemented with calcium and vitamin D supplement. Surgery immediately after birth to restore heart and improve oxygen -rich blood supply. out often, but may not be serious. Types of infections such as common colds and ear infections are usually treated like any child. Most children with the function of the thymus function still follow the normal immunization schedule. For most children with average thymus function, the immune system function will gradually improve with age. Gravity or no thymus, children are at risk of severe infections. Treatment requires thymus tissue, specialized cells from bone marrow or specialized blood cells against disease. Throats and lips are usually treated with surgery. Develop, in order to develop healthy. Autism, depression or other mental disorders or behaviors. Head, hearing or visual problems and other health conditions.

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