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22q11.2 deletion syndrome (DiGeorge)

Syndroma deletionis 22q11.2 · Syndrom delece 22q11.2 (DiGeorgeův)

What it is

A missing piece of chromosome 22, about 1 in 4,000 births; heart defects, a small thymus, low calcium, palate problems and learning difficulty, and about 1 in 4 adults develop schizophrenia.

Symptoms & signs

  • Heart defects (tetralogy of Fallot, interrupted aortic arch)
  • low calcium — seizures and twitching
  • frequent infections from few T cells
  • cleft or weak palate, nasal speech, feeding difficulty
  • learning difficulty and delayed speech
  • anxiety, ADHD and later psychosis

🚩 Get help if…

  • call 112 / 911 now Blue lips, fast breathing or sweating on feeds
  • call 112 / 911 now Jerking, cramps or a seizure
  • see a doctor soon Milk coming out of the nose or poor feeding
  • see a doctor soon Repeated or severe infections

Where it strikes

Medical treatment

  • Microarray or FISH to confirm
  • heart surgery
  • calcium and calcitriol for low calcium
  • T-cell counts; irradiated blood and no live vaccines when T cells are very low
  • thymus tissue transplant for complete DiGeorge — FDA-approved 2021
  • palate surgery and speech therapy
  • psychiatric follow-up; clozapine for resistant psychosis

Natural & lifestyle

  • Early speech, educational and psychological support
  • regular sleep and routine
  • calcium-rich diet

Emerging & experimental

  • Markers to predict psychosis
  • stem-cell-derived thymus tissue

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • Immune-boosting supplements — do not make T cells anecdotal / traditional
  • Special diets for learning difficulty — untested anecdotal / traditional

ICD codes