Medical Specialties

Signs and Symptoms of 22q11.2 Deletion Syndrome in Children


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

The signs and symptoms of 22q11.2 deletion syndrome may vary widely, even among family members. At least 30 different signs or symptoms have been associated with this disorder, but most affected people only have some symptoms.  

The most common symptoms include:

  • Heart defects, which are usually present from birth 
  • Palate abnormalities, such as cleft palate and speech difficulties 
  • Middle ear infections or hearing loss 
  • Feeding difficulties 
  • Low levels of calcium in the blood, due to problems with the parathyroid glands, which can trigger seizures 
  • Immune system problems that can increase risk for infections 
  • Kidney abnormalities 
  • Spine problems, such as scoliosis (curvature in the spine) and abnormalities in the bones of  the neck or upper back 
  • Learning difficulties, especially with nonverbal material, and developmental delays 
  • Communication and social interaction problems, including autism 
  • An increased risk for mental illness, such as anxiety, depression, or schizophrenia in adulthood

Facial features of children with 22q11.2 deletion syndrome may include the following:

  • Small ears with squared upper ear
  • Hooded eyelids
  • Cleft lip and/or palate
  • Asymmetric (uneven) facial appearance when crying
  • Small mouth, chin, and side areas of the tip of the nose  

The symptoms of 22q11.2 deletion syndrome may resemble other problems or medical conditions. Always consult your child's doctor for a diagnosis. 

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