Printable factfile
There are various clinical features of this anomaly. Patients can have: heart defects, abnormal thyroid function, hypocalcemia due to abnormal parathyroid function, poor numbers of T lymphocytes which normally mature in the
thymus. The cardiac abnormalities typically include tetralogy of Fallot, truncus arteriosus, septal defects. The severity of the cardiac abnormalities often determine the outcome. There is often a dysmorphic face with cleft palate, low-set ears, and fish-shaped mouth. There is highly variable immunodeficiency, associated with absence or reduction of thymic size. Severe forms may present as SCID with absent T cells. Learning difficulties and abnormal behaviour are also common.
Diagnosis
Diagnostic recommendations
Additional Information
- The DiGeorge Anomaly, IDF Patient and Family Handbook For The Primary Immune Deficiency Diseases, Third Edition
- DiGeorge Syndrome, eMedicine
- DiGeorge Anomaly, Ospedale Bambino Gesuy
- Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes, United States National Library of Medicine
- Microdeletion 22q11, ORHANET
- DiGeorge syndrome: still teaching us about the thymus, Dr. Sullivan K. slides
Diagnostic laboratories
Clinical:
Genetic:
Therapeutic options
- Surgical treatment of the cardiac abnormalities define prognosis and there are on the first place. If there is evidence for significant humoral deficiency then intravenous immunoglobulins is requiered. Prophylactic antibiotic therapy in case of mild immune defects. Severe defects, with absent T cells, should be considered for BMT. Thymic transplants have been tried but are of uncertain value.
- DiGeorge Syndrome, eMedicine