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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Clinical features relate closely to the structural defects present in the DiGeorge syndrome:

Thymic hypoplasia:

  • low T cell counts
  • susceptibility to mycobacteria, viruses and fungi, for example chronic mucocutaneous candidiasis
  • compensatory B cell leukocytosis
  • peripheral lymphocytes do not respond to polyclonal T cell activators
  • organ specific autoimmune disorders

Absent parathyroid glands:

  • low PTH levels
  • low plasma calcium
  • muscle twitching or tetany
  • basal ganglia calcification and intellectual retardation
  • hypocalcaemic cataract

Congental malformations of the great vessels

Facial abnormalities

Thymic hypoplasia with retention of parathyroid function is termed Nezelof syndrome.

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