Common problems that occur with 22q11.2 deletion syndrome include: As a result, the disorder can cause several errors during fetal development. The portions of chromosome 22 deleted in DiGeorge syndrome (22q11.2 deletion syndrome) play a role in the development of a number of body systems. The lymphatic system includes the spleen, thymus, lymph nodes and lymph channels, as well as the tonsils and adenoids. The lymphatic system is part of the body's immune system, which protects against infection and disease. Other issues may come to the attention of your doctor during regularly scheduled well-baby visits or annual checkups for your child. Your family doctor or pediatrician may suspect the disorder because of a combination of illnesses or disorders that become apparent over time. 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. So it's important to get an accurate and prompt diagnosis if your child shows any signs or symptoms listed above.ĭoctors may suspect 22q11.2 deletion syndrome:
Other conditions may cause signs and symptoms similar to 22q11.2 deletion syndrome. Delayed speech development or nasal-sounding speech.Delayed development, such as delays in rolling over, sitting up or other infant milestones.Difficulty feeding, failure to gain weight or gastrointestinal problems.A gap in the roof of the mouth (cleft palate) or other problems with the palate.Certain facial features, such as an underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip.
#SCID SYMPTOMS SKIN#
Heart murmur and bluish skin due to poor circulation of oxygen-rich blood (cyanosis) as a result of a heart defect.Signs and symptoms may include some combination of the following: Some signs and symptoms may be apparent at birth, but others may not appear until later in infancy or early childhood. 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.
0 kommentar(er)
