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. 
signs symptoms digeorge syndrome (22q11 2 deletion syndrome) can vary type severity  depending body systems affected severe defects are  signs symptoms may apparent birth  may later infancy early childhood  signs symptoms may include combination following:  heart murmur bluish skin due poor circulation oxygen-rich blood (cyanosis) result heart defect frequent infections facial features  underdeveloped chin  low-set ears  wide-set eyes narrow groove upper lip gap roof mouth (cleft palate) problems palate delayed growth difficulty feeding  failure gain weight gastrointestinal problems breathing problems poor muscle tone delayed development  delays rolling over  sitting infant milestones delayed speech development nasal-sounding speech learning delays disabilities behavior problems  see doctor conditions may cause signs symptoms similar 22q11 2 deletion syndrome  it's important accurate prompt diagnosis child shows signs symptoms listed above  doctors may suspect 22q11 2 deletion syndrome:   birth  conditions — severe heart defect  cleft palate combination factors typical 22q11 2 deletion syndrome — readily apparent birth  diagnostic tests will likely begin child leaves hospital  well-baby visits  family doctor pediatrician may suspect disorder combination illnesses disorders apparent time  issues may come attention doctor regularly scheduled well-baby visits annual checkups child
digeorge syndrome