site logo

Learn more about 22q physical characteristics

Note: not all people with 22q Deletion will have all of these physical characteristics and/or symptoms.
Heart
  • Defects are found in 74% of affected individuals.
    • Range from very mild to very severe and may require no surgery or many surgeries.
Palate (roof of the mouth)
  • Abnormalities are found in 69% of affected individuals. These can include:
    • Clefts (holes) in the palate that require surgery; 
    • Submucosal (involving the muscular layer beneath) clefts that may or may not require surgery but may affect speech; and
    • Velopharyngeal insufficiency, a condition in which the palate closes improperly during speech. 
  • These abnormalities contribute to the high percentage of children with this condition who require speech therapy.
Face
  • Children and adults with 22q deletion syndrome may have distinct facial features that include a nose that is broad at the top and narrow at the bottom, smaller appearing eyes and a small mouth. 
  • These facial features are usually not distinct enough to be recognized by the untrained eye.
Learning difficulties
  • Found in 70-90% of individuals with 22q deletion syndrome. 
  • The most common delays in early childhood are in the area of motor development, often related to low muscle tone, and language development.
Attention
  • Difficulties are the most commonly found behavioral difference and it is estimated that 30-50% of children with 22q deletion fit the diagnostic criteria for ADHD.
  • Autism spectrum disorders are common – found in about 20% of individuals with 22q deletion syndrome.
Psychiatric illness
  • More common than in the general population and may include bipolar disorder, schizophrenia, anxiety, perseveration and depression.
Immune deficiency
  • Primarily in the numbers of T-cells (immune functioning blood cells) 
  • Present in 77% of individuals with 22q deletion syndrome.
  • Despite this, very few school age children require active management for their immune deficiency.
Hypocalcemia (low calcium levels)
  • May occur and may be serious in infancy, and can cause seizures.
  • The levels tend to normalize, and this is no longer commonly an issue in school age children.
Other less common findings

May include

  • Significant feeding problems, including severe difficulty swallowing requiring nasogastric tube (NG-tube) feedings and/or gastrostomy tube (G-tube) placement.
  • Kidney (renal) anomalies (31%)
  • Hearing loss (both conductive and sensorineural) 
  • Differences in the larynx, trachea, and/or esophagus, including vascular ring and laryngeal webs 
  • Growth hormone deficiency
  • Autoimmune disorders may occur at a higher frequency, including these possibilities:
    • juvenile rheumatoid arthritis
    • idiopathic thrombocytopenia (blood condition)
    • hyperthyroidism or hypothyroidism
    • vitiligo (a skin condition in which there is a loss of brown color from areas of skin, resulting in irregular white patches that feel like normal skin)
    • hemolytic anemia
    • autoimmune neutropenia (low levels of white blood cells)
    • aplastic anemia
    • celiac disease
  • Seizures may occur due to hypocalcemia (low levels of calcium) but are rare in the absence of low calcium levels.  
  • Skeletal abnormalities including upper and lower extremities anomalies, vertebral, and rib anomalies.