DiGeorge syndorme

DiGeorge syndrome (abbreviated DGS; also referred to as: DiGeorge anomaly, hypoplasia of the thymus and parathyroid glands, velocardiofacial syndrome; 22q11.2 deletion syndrome, DiGeorge anomaly, velo‑cardio‑facial syndrome (VCFS), Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, thymic hypoplasia) is caused by a deletion of a gene on the long arm of chromosome 22. It occurs in the population with a frequency of approximately 1 in 4,000. It was first described in 1968 by pediatric endocrinologist Angelo DiGeorge, after whom the syndrome is named.

Symptoms and Diagnosis

DiGeorge syndrome affects multiple organ systems and is associated with their impaired development. It includes congenital heart defects, learning difficulties, congenital facial anomalies and cleft palate, congenital renal abnormalities, immune system disorders, and complications resulting from low blood calcium levels. Children with DGS have immune deficiency because the thymus is insufficiently developed or completely absent (thymic hypoplasia to aplasia), leading to inadequate development of T lymphocytes, which play a crucial role—together with other immune cells—in the body’s immune defense.

In recent years, a possible association between DiGeorge syndrome and schizophrenia has also been studied, with evidence suggesting that patients with DGS have a higher risk of developing schizophrenia.

Diagnosis is based on immunological testing, and the chromosomal deletion can be identified using FISH (fluorescence in situ hybridization).

Treatment

Currently, there is no causal treatment for DiGeorge syndrome. Only the symptoms of the syndrome can be treated. In severe cases, bone marrow transplantation may be performed. 

• are highly variable, depending on which organ system is affected
• congenital heart defects – especially tetralogy of Fallot (ventricular septal defect, dextroposition of the aorta overriding the septal defect, pulmonary stenosis, right ventricular hypertrophy)
• cyanosis – bluish discoloration of the skin caused by insufficient blood oxygenation, skin mottling cleft palate
• characteristic facial features – underdeveloped chin, low‑set ears, widely spaced eyes
• learning difficulties, behavioral disorders, increased predisposition to schizophrenia
• hypocalcemia (reduced serum calcium level) – caused by impaired parathyroid function, leading to muscle cramps
• congenital kidney defects
• hearing loss
• short stature caused by growth hormone deficiency
• immunodeficiency, frequent infections
• feeding difficulties, failure to thrive, digestive disorders
• various types of respiratory difficulties
• hypotonic syndrome
• delayed psychomotor development
• delayed onset of speech