DiGeorge syndrome
What is it?
DiGeorge syndrome is a genetic disorder that causes heart defects, impaired immune system and developmental delay. The disorder’s characteristics are usually present at birth or in early childhood. The people who have DiGeorge syndrome are missing a small piece of chromosome 22, that’s why the condition is also known as 22q11.2 deletion syndrome. Children with DiGeorge syndrome have an increased risk of having autism spectrum disorder and ADHD. When they grow up they tend to have more mood disorders and schizophrenia.
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Additional names
This group contains additional names:
- Chromosome 22q11.2 deletion
- De George's Syndrom
Signs & symptoms
DiGeorge syndrome symptoms vary from patient to patient, sometimes people with DiGeorge may not have any symptoms at all. Symptoms may include facial features such as hooded eyelids, cheek flatness, prominent bulbous nasal tip, underdeveloped chin. Other symptoms include breathing problems, developmental delay, learning disabilities, congenital heart disease, hypocalcemia, recurrent infections, kidney abnormality, endocrine system problems, speech problems, cleft lip and palate.
Diagnosis
DiGeorge syndrome is usually diagnosed upon physical examination when healthcare providers see the features of the syndrome. Then, genetic testing may be done to confirm the diagnosis. Imaging tests may be done to search for the involvement of other organs.
Treatment
DiGeorge syndrome has no cure, treatment is given to treat the symptoms and may vary between patients. For example, antibiotics may be given to treat infections, calcium supplements for low calcium levels, ear tubes to improve hearing, physical therapy, and even surgical procedures.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:
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