Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.

[22q11.2 deletion syndrome]

The commonest autosomal deletion , 22 q 11 .2 deletion syndrome (22 q 11 DS ) is a multisystem disorder varying greatly in severity and age of identification between affected individuals . Holistic care is best served by a multidisciplinary team , with an anticipatory approach . Priorities tend to change with age , from feeding difficulties , infections and surgery of congenital abnormalities particularly of the heart and velopharynx in infancy and early childhood to longer-term communication , learning , behavioural and mental health difficulties best served by evaluation at intervals to consider and initiate management . Regular monitoring of growth , endocrine status , haematological and immune function to enable early intervention helps in maintaining health .Guidelines to best practice management of 22 q 11 DS based on a literature review and consensus have been developed by a national group of professionals with consideration of the limitations of available medical and educational resources .

Diseases
Validation

Diseases presenting "infections and surgery of congenital abnormalities particularly of the heart and velopharynx in infancy and early childhood to longer-term communication" symptom

22q11.2 deletion syndrome

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