DiGeorge Syndrome

What is DiGeorge Syndrome ?

DiGeorge syndrome is a genetic condition which is caused due to mutation in the DNA. The chromosome which is affected in this syndrome is chromosome number 22 where there is deletion of a part of chromosome. This leads to several signs and symptoms and affects multiple systems of the body.

DiGeorge syndrome is also known as 22q11.2 deletion syndrome or 22.q syndrome in short. Other names of the syndrome by which it was known as previously are velocardiofacial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome and Caylor cardiofacial syndrome.

What causes DiGeorge Syndrome?

DiGeorge syndrome happens because of the deletion of a part of the chromosome number 22. The chromosome number 22 has several genes which affects functioning of the body. The deletion of a part of chromosome 22 leads to a problem with these functions. Deletion can happen spontaneously while the child is developing in the womb or it can also be passed from the parents to the child.

What are the signs and symptoms of DiGeorge Syndrome?

There are several different signs and symptoms of the DiGeorge syndrome. The number of signs and symptoms which will appear very from person to person. Some children may have only one or two symptoms while others can have a multitude of these:

• The child can have heart problems.
• There may be developmental delays with delays in walking and talking.
• The child can have feeding problems.
• There can be problems in speech with a nasal sounding speech.
• The child may have submucous cleft palate.
• The child can develop hearing problems.
• There can be unusual shape or position of the eyes, ears, nose, mouth, and jaw.
• There can be problems with the shape of the spine.
• There may be some hormonal dysfunction.
• The child can have seizures.
• There may be slow growth.
• The child may have frequent infections.
• Mental health conditions may appear in older children or teenagers.
• Learning problems may be present.
• There can be problems with vision and dentition.

How is DiGeorge Syndrome managed?

A team of multi disciplinary specialist would be required to effectively manage DiGeorge syndrome and it would include doctors from various fields including pediatrics, pediatric surgery, neurology otolaryngology, ophthalmology, psychiatrist, behavioural therapy, spech therapy and so on. Surgical interventions may be required soon after both the manage life threatening complications such as breathing problems and heart problems.

What should I know as a parent?

• You should find a doctor with specialisation in DiGeorge syndrome to help your child get adequate treatment.
• You should never miss an appointment with your child’s doctor and make sure to follow all the prescriptions.
• You should consider getting speech therapy and physical rehabilitation therapy for your child. This can help them in the day to day tasks.
• You can also consider getting therapy for your child if they feel anxious or depressed often.
• You should consider joining a support for parents with children of DiGeorge syndrome. This can help you cope with the mental and physical stress.