DiGeorge syndrome also known as 22q11.2 syndrome is a genetic disorder where the chromosome 22 is missing.  22q11.2 syndrome covers conditions that were once thought to be separate such as DiGeorge syndrome, and Velocardiofacial syndrome.  This condition appears at birth.  It can sometimes be diagnosed before your child is born.  The condition is usually present at birth though sometimes symptoms don’t show until later into infancy.  This genetic disorder has a tendency to be genetic though it can happen randomly. 

It is extremely rare with only 1 in 4000 babies in the US having this condition.

 

Symptoms  

DiGeorge syndrome can cause a wide variety of symptoms.  Symptoms can vary from patient to patient.  Severity can also range from minor to severe.  There are sometimes no symptoms. 

DiGeorge syndrome can cause physical symptoms.  Facial features such as hooded eyelids, cheek flatness, prominent bulbous nasal tip, underdeveloped chin, ears that appear prominent with attached lobes, wide set eyes, and a cleft palate with or without a cleft lip. 

Other symptoms include breathing difficulties, heart defects, heart murmur, bluish skin due to poor circulation, frequent infections, delayed growth, difficulty feeding, trouble gaining weight, or gastrointestinal problems. 

DiGeorge syndrome can also cause delayed development in rolling over, sitting up, and other infant milestones.  Delayed speech, learning delays, behavioral problems can also occur.  Hypocalcemia, kidney abnormalities, and endocrine system problems are symptoms as well. 

 

Complications

There are some main complications that go along with DiGeorge syndrome. 

One being heart defects.  Certain heart defects can happen with DiGeorge syndrome which could lead to insufficient supply of oxygen rich blood.  Examples of heart defects are a hole below the lower chambers of the heart, or only one large vessel instead of two. 

Another complication is hypoparathyroidism.  This can cause low levels of calcium and high levels of phosphorus in the blood. 

Thymus gland dysfunction can be another complication.  The thymus gland could be small or missing which can cause poor immune function, as well as frequent and severe infections. 

A cleft palate is common with DiGeorge syndrome with or without a cleft lip.  A cleft palate can cause difficulty swallowing as well as difficulty speaking. 

Autoimmune disorders can also accompany DiGeorge syndrome such as Grave’s disease or rheumatoid arthritis. 

 

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Diagnosis

Diagnosis can happen before birth in some cases, but usually at birth it can be diagnosed easily. 

Before birth DiGeorge syndrome can be diagnosed with a prenatal ultrasound.  Usually found in the growth ultrasound done between weeks 19-20 of pregnancy.  The ultrasound will be able to detect any congenital heart defects or a cleft palate. 

After birth your doctor is likely to see physical signs.  They will want to do special tests after birth if seizures, unique facial features, or low calcium levels are present after birth. 

Genetic testing before or after birth can also diagnose DiGeorge syndrome.  Imaging tests, X-ray or CT scan, can identify defects in the heart and other organs.  A physical exam of the face, ears, eyes and joints can also be done to diagnose DiGeorge syndrome. 

 

Treatment

Treatment is completely dependent on symptoms.  Antibiotic medications may be given to treat infections.  Calcium supplements if calcium levels are low.  Ear tubes, or hearing aids may be prescribed to help with any hearing loss.  Occupation therapy to help with development and behavioral issues.  Physical therapy to help improve mobility and movement.  Replacement of missing hormones.  Surgery to repair a heart defect, cleft palate, or nasal speech.  Surgery to help fix any heart defects is usually done fairly soon after birth. 

There may be a whole team of specialists to help treat DiGeorge syndrome since the symptoms range so widely.  Some specialists that may work along with your pediatrician are a cardiologist, immunologist, endocrinologist, speech therapist, physical therapist, ENT specialist, and occupational therapist.  Not all of these specialists may be needed depending on the symptoms and severity of the syndrome. 

 

Takeaway

There is no way to prevent DiGeorge syndrome.  Since it is a rare genetic disorder that tends to be random in most cases.  Most children live long full lives with DiGeorge syndrome when treated appropriately and continuously. Prognosis depends on the severity of the condition and what organs are affected.  Only a small percentage of babies have severe complications with their heart and immune systems that may be life threatening.  

 

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