DiGeorge Syndrome. Main problem is related to the immune system, due to aplasia of the thymus (T cells are unable to mature). The parathyroid glands are also generally absent, leading to problems with calcium absorption and maintenance (no PTH). The syndrome is commonly due to a deletion on chromosome 22 (22q11.2). Though the syndrome can have a spectrum of symptoms, you can memorize the general symptoms with this mnemonic:
CATCH-22
Cardiac Abnormalities (especially Tetralogy of Fallot)
Abnormal Facies
Thyroid aplasia
Cleft Palate
Hypocalcemia
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22: found on chromosome 22
thyroid aplasia or thymic aplasia
ReplyDeleteparathyroid and Thymic Hypoplasia
ReplyDeleteThis is great, such an interesting and so important to raise awareness of 22q11-2-deletion: https://fdna.health/syndromes/22q11-2-deletion-syndrome/
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