DiGeorge Syndrome: Causes, Manifestations, and Therapeutic Strategies
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a chromosomal disorder that affects the 22nd chromosome. This condition, which can be evident at birth, in infancy, or during early childhood, is not typically inherited and affects around 30 to 40 genes.
Early diagnosis and treatment, along with ongoing monitoring, are essential for individuals with DiGeorge syndrome to maintain good health. A FISH analysis (Fluorescence In Situ Hybridization) is often used to diagnose the syndrome, particularly if a child shows symptoms indicating DiGeorge syndrome or signs of a heart defect.
The condition is caused by a small deletion on the 22nd chromosome at the q11.2 location. This deletion can result in a wide range of signs and symptoms, including a cleft lip or palate, delays in learning to walk or talk, mouth and feeding problems, speech, hearing, or vision problems, shorter stature, specific facial features, bone, spine, joint, or muscle problems, frequent infections, heart issues, mental health concerns, hypoparathyroidism, and tremors or seizures.
Treatment options for DiGeorge syndrome are varied and depend on the organ systems involved. These may include pediatricians, cardiologists, geneticists, immunologists, infectious disease specialists, endocrinologists, surgeons, therapists, mental health professionals, and supportive services such as physiotherapy, educational, and language support.
Severe thymus dysfunction may necessitate surgery, thymus tissue transplantation, bone marrow transplant, stem cell transplant, or transplant of disease-fighting blood cells. Treatment for hypoparathyroidism includes supplementation with vitamin D, calcium, and parathyroid hormone. Other treatments for specific symptoms include surgical repair for cleft palate and surgical repair for heart defects.
It's important to note that while there is no cure for DiGeorge syndrome, it is a lifelong condition. The outlook depends on the organ system affected and the severity of the condition. Most people with DiGeorge syndrome can expect to live as long as people without the condition, but they may continue to experience ongoing health issues.
DiGeorge syndrome is also associated with several other names, including Velocardiofacial syndrome, Conotruncal anomaly face syndrome, Shprintzen syndrome, and CATCH22. These names reflect the various clinical features and historical classifications before it was understood that they all result from the same chromosomal deletion on the 22nd chromosome.
Mental health care may be required depending on the diagnosis for individuals with DiGeorge syndrome. Supportive services, such as physiotherapy, educational, and language support, are available for individuals with DiGeorge syndrome. Around 10% of people with the syndrome have inherited the deletion from a parent.
Adults with DiGeorge syndrome can often live independently. However, it's crucial to remember that ongoing monitoring and care are essential for managing the condition effectively. With proper care and support, individuals with DiGeorge syndrome can lead fulfilling lives.
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