DiGeorge's Syndrome | What is it?
DiGeorge's Syndrome is also known as 22q11.2 deletion syndrome. It is a disorder caused by a defect in chromosome 22. It results in the poor development of several body systems.
The syndrome can cause heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development with behavioral and emotional problems.
The number and severity of symptoms associated with DiGeorge syndrome vary greatly. There is no cure, but treatments can address critical health concerns.
Before the discovery of the chromosome 22 defect, the disorder was known by several names — DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, CATCH22 and others. Although the term "22q11.2 deletion syndrome" is frequently used today — and is generally a more accurate description — previous names for the disorder are still used.
Signs and symptoms of DiGeorge syndrome can vary significantly 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:
- Bluish skin due to poor circulation of oxygen-rich blood (cyanosis) as a result of a heart defect
- Breathing problems
- Twitching or spasms around the mouth, hands, arms or throat
- 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 and gastrointestinal problems
- Failure to gain weight
- Poor muscle tone
- Delayed development, such as delays in rolling over, sitting up or other infant milestones
- Delayed speech development
- Learning delays or difficulties and behavior problems
Can Pediatric Therapy Help?
Addie's AutismFITT Club's Pediatric Occupational Therapists and Pediatric Speech-Language Therapists can help your child with the following:
- Therapist can help your child develop practical, everyday skills
- Therapist can help your child improve verbal skills and articulation
- Therapist can help your child develop age-appropriate behaviors, social skills and interpersonal skills