Note: not all people with 22q Deletion will have all of these physical characteristics and/or symptoms.
- 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.
- 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.
- 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.
- 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.
- More common than in the general population and may include bipolar disorder, schizophrenia, anxiety, perseveration and depression.
- 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
- 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.