The eponymous syndrome first described in print by Angelo DiGeorge in 1968 forms part of the wider phenotype arising from deletions at the q11.2 locus of chromsome 22, potentially causing abnormalities in a number of organ systems. These commonly include:
- Parathyroid glands – leading to hypocalcaemia
- Cardiovascular: structural heart defects such as VSD, fallots, truncus ateriosis
- Thymus gland: resulting in thymic hypoplasia and immune deficiency
- Palate: cleft palate or sub mucous clefts resulting in swallowing impairment and speech difficulties
- Auto-immune problems: increased risk of rheumatoid arthritis and Graves disease
- Brain: may be problems with development resulting in difficulties in learning, developmental delay and or social, behavioural problems
- Growth: children may have poor growth
- Kidneys: structural abnormalities predisposing to infection or impaired function
- Eyes: visual impairment due to strabismus or refractory errors.
Children and adolescents with Di George therefore require multi disciplinary team input to ensure follow up when and where appropriate with investigations as appropriate, including paediatrics and paediatric immunologists, cardiologists and rheumatologists, community paediatricians, genetics, endocrinologists, maxillofacial specialists, speech therapists, occupational therapists and psychologists.
A lead clinician should be nominated when the patient is diagnosed, to ensure that the patient is able to access all the relevant specialities. If there are any abnormalities found, these should be reviewed by the relevant specialist.
Please note: All documents related to the Di George Guidelines are currently under review by SPAIIN. We apologise for any inconvenience caused. All updated documents will be available on this site once finalised.
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Guideline Disclaimer:
These guidelines do not intended to be construed or to serve as a standard of care. Standards of care are determined on the basis of all clinical data available for an individual case and are subject to change as scientific knowledge and technology advance and patterns of care evolve. Adherence to guideline recommendations will not ensure a successful outcome in every case, nor should they be construed as including all proper methods of care or excluding other acceptable methods of care aimed at the same results. The ultimate judgement must be made by the appropriate healthcare professional(s) responsible for clinical decisions regarding a particular clinical procedure or treatment plan. This judgement should only be arrived at following discussion of the options with the patient, covering the diagnostic and treatment choices available. It is advised, however, that significant departures from the national guideline or any local guidelines derived from it should be fully documented in the patient’s case notes at the time the relevant decision is taken.