What is DiGeorge Syndrome ?

DiGeorge syndrome is a genetic disorder that results from a defect in chromosome 22. Individuals with DiGeorge syndrome have a part of chromosome 22 deleted. DiGeorge syndrome results in delayed or impaired development of several systems in the body.

One in every four thousand individuals may be affected by DiGeorge Syndrome.

DiGeorge Syndrome Symptoms

The symptoms of DiGeorge syndrome may vary in severity and type. Some signs may be evident from birth or may be visible at a later stage. Some of the signs of DiGeorge syndrome are as follows:

• Easy tiredness or fatigue
• Failure to make full use of the body’s and mind’s potential
• Poor circulation of the blood rich in oxygen resulting in bluish skin color.
• Deficient muscle tone
• Problems gaining weight
• Increased infections
• Respiratory issues including shortness of breath
• Feeding problems
• Spasms, tremors or twitching of the arms, hands, and/ or around the throat or mouth.
• Speech development delays
• Delayed motor development such as delays in infant motor benchmarks like sitting up or rolling over.
• Disabilities or delay in learning
• Abnormalities in facial features like, the upper lip has a narrow groove, ears that are low-set or eyes that are wide-set.
• Cleft palate or other abnormalities of the palate.

DiGeorge Syndrome Pictures

Picture 1 : Autosomal dominanat in Digeorge Syndrome

Image source: Wikimedia.org

Picture 2 : Digeorge Syndrome

Image source: health-pictures.com

Picture 3 :  Digeorge Syndrome pic

Image source: rialx.com

Picture 4 : Digeorge Syndrome Photo

Image source: trialx.com

Picture 5 : Brain computer tomography showing basal ganglia and periventricular calcification in Digeorge Syndrome

Image source:  wikimedia.org

DiGeorge Syndrome Causes

• DiGeorge syndrome caused due to the deletion of a portion of the chromosome 22. This deleted portion may include around 35 to 40 genes.
• The deletion of the genes in chromosome 22 may happen at random in either the mother’s egg or the sperm of the father. The deletion may also happen during the early stages of the development of the foetus. Once the mutation of the chromosome has taken place in the foetus, then it will continue to replicate and multiple in all the cells of the growing foetus.

DiGeorge Syndrome Treatment

DiGeorge syndrome has no cure. The treatment involves treating the symptoms of DiGeorge syndrome.

• Medication may be given to treat thymus dysfunction and hypoparathyroidism and surgery may be required for heart defects and abnormalities like cleft palate.
• Therapies like occupational therapy for learning daily-life skills, developmental therapy for behaviour modification and speech therapy to improve language and verbal skills are helpful to treat the deficits in individuals with DiGeorge syndrome.