DiGeorge syndrome | AKA 22q11.2 deletion syndrome

Summary:  DiGeorge syndrome is a genetic condition caused by the deletion of a chunk of genes on chromosome 22 (specifically the q11.2 region). The classic triad of DiGeorge syndrome is cardiac anomalies, underdeveloped thymus gland and hypocalcaemia (secondary to underdevelopment of the parathyroid glands). The phenotype of DiGeorge syndrome is related to abnormal development of the embryonic pharyngeal pouch system, which is responsible for the development of the thymus, parathyroid gland, some facial development including ear development, and some cardiac development. DiGeorge syndrome is classified as either partial or complete, with the distinction being that patients with complete DiGeorge syndrome have profound immune deficiency secondary to a complete absence of the thymus.    You don't want to miss: A case Explaining the condition to families An overview of the pathophysiology Aetiology Presentation Investigations to consider Complications Treatment and monitoring considerations    Links and resources:   Follow us on Instagram @yourekiddingright.pod Facebook: https://www.facebook.com/yourekiddingrightpod-107273607638323/   Our email is [email protected]   Make sure you hit SUBSCRIBE/FOLLOW so you don't miss out on any pearls of wisdom and RATE if you can to help other people find us!   (This isn't individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)

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