22q11.2 Deletion Syndrome

What are the symptoms of 22q11.2DS?

Although 22q11.2DS is a condition one is born with, some symptoms develop gradually over a number of years. The severity of symptoms varies from person to person.

The main features include:

• Distinctive facial features. These may include an underdeveloped chin, hooded eyelids, wide-set eyes, low-set ears or a narrow groove in the upper lip.
• Abnormal palate. A cleft palate (a gap in the roof of the mouth) and other palatal abnormalities that can cause difficulty in swallowing or producing certain sounds in speech.
• Congenital heart defects. A number of heart defects are associated with 22q11.2DS, such as:
  • A hole between the lower chambers of the heart (ventricular septal defect)
  • Having only one large vessel, instead of two, leading out of the heart (truncus arteriosus)
  • A combination of four abnormal heart structures (tetralogy of Fallot)
• Weaker immune system function. This makes it difficult for the body to fight infections.
• Hypoparathyroidism. The four parathyroid glands located in the neck regulate the calcium level in the body. Smaller-thannormal parathyroid glands can be seen in 22q11.2DS. This causes low levels of the parathyroid hormone resulting in low levels of calcium and high levels of phosphate in the blood.
• Learning difficulties, and behavioural and mental health issues. Delays in speech development and learning difficulties can be seen. Attention-deficit/hyperactivity disorder (ADHD) or autism spectrum disorder may develop in some children. There is also a greater risk of depression, schizophrenia and anxiety disorders later in life.
  
  

Other medical concerns

The following concerns can also be seen in 22q11.2DS and need to be watched for and treated if necessary:

• Difficulty feeding
• Delayed growth or short stature
• Gastrointestinal anomalies
  
• Genitourinary tract anomalies including renal anomalies
• Impaired hearing and vision
• Middle ear infections
• Bone and muscle issues – hypotonia, scoliosis, arthritis
  
• Autoimmune disorders

The features of 22q11.2DS can be very different even amongst people with the condition in the same family.