DiGeorge Syndrome

DiGeorge syndrome is a rare congenital genetic disorder that results in a complex disorder. The syndrome occurs in about one of 4,000 people.


The cause is a chromosomal defect when the cells of the affected individual are missing a small section of 22nd chromosome. This part of the chromosome has a huge effect on the whole body, especially the correct development of the organs of the neck.


The affected have a higher incidence of heart defects, learning disabilities, various facial cleft defects and hearing impairment. There are also present developmental disorders of the cervical organs such as the thymus, thyroid gland and parathyroid bodies. The thymus is important for proper development of white blood cells (T-lymphocytes) and its absence is therefore associated with various immune disorders. Parathyroid glands are important in maintaining calcium level in blood and their disruption leads to decrease of blood calcium (hypocalcemia). Low calcium results in a higher tendency to muscle spasms. Decreased thyroid function affects energetic metabolism causing many symptoms (see related article).


The diagnosis is determined by clinical symptoms and genetic testing. We may obtain white blood cells from a sample of peripheral blood and confirm the above-mentioned chromosomal defect.


The syndrome is congenital and it can not be prevented or cured. It is only possible to treat its symptoms, i.e. the deformations. Cosmetic affection is treated by plastic surgeons, cardiovascular malformation by cardiac surgeons. Hormonal disorders are treated by endocrinologists who mainly aim to supply the patient with missing hormones.


Jiri Stefanek, MD  Author of texts: Jiri Stefanek, MD
 Contact: jiri.stefanek@seznam.cz
 Sources: basic text sources