Symptoms

Signs and symptoms of DiGeorge syndrome (22q11.2 deletion syndrome) can vary in type and severity, depending on what body systems are affected and how severe the defects are. Some signs and symptoms may be apparent at birth, but others may not appear until later in infancy or early childhood.

Signs and symptoms may include some combination of the following:

• Heart murmur and bluish skin due to poor circulation of oxygen-rich blood (cyanosis) as a result of a heart defect
• Frequent infections
• Certain facial features, such as an underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip
• A gap in the roof of the mouth (cleft palate) or other problems with the palate
• Delayed growth
• Difficulty feeding, failure to gain weight or gastrointestinal problems
• Breathing problems
• Poor muscle tone
• Delayed development, such as delays in rolling over, sitting up or other infant milestones
• Delayed speech development or nasal-sounding speech
• Learning delays or disabilities
• Behavior problems

When to see a doctor

Other conditions may cause signs and symptoms similar to 22q11.2 deletion syndrome. So it's important to get an accurate and prompt diagnosis if your child shows any signs or symptoms listed above.

Doctors may suspect 22q11.2 deletion syndrome:

• At birth. If certain conditions — a severe heart defect, cleft palate or a combination of other factors typical of 22q11.2 deletion syndrome — are readily apparent at birth, diagnostic tests will likely begin before your child leaves the hospital.
• At well-baby visits. Your family doctor or pediatrician may suspect the disorder because of a combination of illnesses or disorders that become apparent over time. Other issues may come to the attention of your doctor during regularly scheduled well-baby visits or annual checkups for your child.