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by Summerly Rowlands

What are the symptoms of 22q11.2 deletion syndrome?

The symptoms of 22q vary greatly in type and severity. Some signs and symptoms may be apparent at birth, but others may not appear until later in life. This genetic deletion can affect every system in the human body with nearly 200 mild to serious symptoms, however, most people only present with some. No two individuals diagnosed with 22q are the same. The most common symptoms are listed below:

  • Heart defects
  • Cleft palate – not to be confused with cleft lip, though cleft lip is possible too; cleft palate is an opening in the roof of the mouth which may or may not be visible to the eye
  • Hypoparathyroidism – we all have four parathyroid glands in our neck that regulate the levels of calcium and phosphorus in our body; hypoparathyroidism occurs when there is an issue with PTH (parathyroid hormone) not being produced in sufficient quantity, resulting in low levels of calcium and high levels of phosphorus in the blood – can cause seizures
  • Thymus gland dysfunction – the thymus gland is where T cells live (T cells are a type of white blood cell that help fight infections); with 22q deletion syndrome, the thymus gland may be small or missing, resulting in a weakened immune system & frequent, severe infections – this also increases the risk for autoimmune diseases
  • Developmental delays – could be delays in rolling over, sitting up, walking, or other infant milestones
  • Speech delays (or nasal-sounding voice)
  • Poor muscle tone
  • Learning & behavioral problems – 22q deletion may cause problems with development and function of the brain, resulting in learning, social/emotional, developmental, or behavioral problems – some children become diagnosed with ADD/ADHDOCD, and/or autism
  • Mental health issues – later in life with 22q deletion, the risk for depressionanxiety, and schizophrenia increases
  • Feeding difficulties – can cause gastrointestinal (digestive) issues or reflux & possibly failure to gain weight
  • Breathing problems
  • Poor kidney function
  • Hearing impairment
  • Poor vision
  • Distinct facial features – certain facial features may be present in some people with 22q deletion including small, low-set ears, small jaw, underdeveloped chin, hooded or wide-set eyes, an elongated face, an enlarged nose tip, a short or flattened groove in the upper lip (cleft lip), small & slender stature, tapered hands and fingers, small head circumference… to name a few