DiGeorge Syndrome: Facts and Resources About the Genetic Disorder

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DiGeorge Syndrome (DGS) is a genetic disorder with the conditions for it capable of occurring in different forms for each individual with the syndrome.  Some of the conditions that are ordinary involve leaving impression on facial appearance, certain heart diseases, and lack of or underdeveloped parathyroid and thymus glands.  This particular primary immunodeficiency disease forms as result of certain cells and tissues developing and migrating abnormally.  That happens while the fetus differentiates and grows.  All the patients with DGS may not have the same organs affected or have the same harshness of deformity on each one.  Lastly, most patients have a small deletion occurring during early fetal development in a certain spot of chromosome number 22 at position 22q11.2.  Thus, it is also commonly referred as 22q11.2 deletion syndrome.

Endocrinologist Angelo DiGeorge, MD

DiGeorge syndrome was first described during the 1960s by an endocrinologist named Angelo DiGeorge, MD.  He perceived there was a connection between of a lack of parathyroid glands (results in low calcium levels in the blood) and a lack of the thymus gland (imperative for particular features of immunity).  Afterwards, there was a discovery that a high percentage of children with DGS were also having particular types of congenital heart disorder.

Velocardiofacial Syndrome

DiGeorge syndrome is related to another genetic condition entailing a chromosome abnormality that is called Velocardiofacial syndrome (VCFS).  “Velo” refers to the palate in the mouth.  It was first described by a speech pathologist named Robert Shprintzen, MD in 1978.  The disorder also was known as Shprintzen syndrome.

There is a distinctive facial resemblance among children with velocardiofacial syndrome that is similar to what has noticed among individuals with DiGeorge syndrome.  Some of the VCFS patients will have a cleft palate.  It is common for the children to also have congenital heart defects and learning problems (especially with speech and language).  Sometimes low calcium levels do occur.  Conversely to DiGeorge syndrome, VCFS does not harshly damage the immune system.  Yet, it may be slightly abnormal and the thymus may not be in its usual position.

Conotruncal Anomaly Face Syndrome

A doctor in Japan, Atsuyoshi Takao, MD, also shared his thoughts on  velocardiofacial syndrome after working on his researches.  He came up with a different name for it, which is conotruncal anomaly face syndrome.  Conotruncal is in reference to the part of the heart that includes the aorta and pulmonary artery, which is has been perceived as the most common cardiac abnormality in VCFS.

Chromosome 22q11 Deletions

Over time, researchers saw that both DiGeorge syndrome and velocardiofacial syndrome are strongly comparable with each other in numerous ways.  A large number of other problems that patients with those syndromes might get also overlap.  Chromosome 22q11 deletions is the reason for the congenital diseases to have distinguish similarities.  Also, both of them can be observed within one family.  An example is a father with DiGeorge syndrome may have a daughter with VCFS.

Symptoms of DiGeorge Syndrome

Symptoms and signs for DiGeorge syndrome may exist at time of birth or manifest soon after birth.  Some children may have eyes with heavy eyelids, a partially developed chin,  ears that are rotated back, and deficient upper parts of their ear lobes.

Children with DiGeorge syndrome might indicate signs of low blood calcium levels due to hypoparathyroidism.  Not having normal levels could cause patients to have seizures.  This defect often becomes less severe with time.

Patients with DiGeorge syndrome may have various cardiac disorders instead of just one.  Most often, the defects involve the aorta and the part of the heart from which the aorta develops.  Symptoms of a heart anomaly include a heart murmur, signs of heart failure, and having low oxygen levels in their arterial blood.

Children with DGS could show symptoms of infection due to underdevelopment of their thymus gland and low T-lymphocyte levels. These children, therefore, may have an augmented chance to have bacterial, fungal, or viral infection.  The thymus starts to develop high in the neck area during the first three months of fetal development.  Abnormal thymus lowers itself down into the chest to its final spot over the heart and under the breastbone; it does this as it grows larger and matures.

The maturation and development of T-lymphocytes – T stands for thymus – are controlled by the thymus.  Furthermore, the size of the thymus influences and correlates with the amount of T-hymphocytes that can be produced.  T-lymphocytes are indispensable for resistance to only particular fungal and viral infections.  B-lymphocytes get assistance from T-lymphocytes to develop into plasma cells and produce immunoglobulins or antibodies.

Developmental Abnormalities

It is possible that DiGeorge syndrome may cause some other development abnormalities including cleft palate, which can lead to troubled usage of the palate, struggle with feeding and swallowing, and postpone commandment of speech.  Considerable amount of patients have behavioral problems, hyperactivity, and learning disabilities.  Some of the above-mentioned disorders could cause children and adults to be diagnosed at a much older age.  Newborns may not show symptoms until they are a few weeks or even months older.

Treatments for DiGeorge Syndrome

Treatments to alleviate any defects that are part of DiGeorge syndrome could either be therapy or surgery.  To increase calcium level and hypoparathyroid, doctors might recommend calcium supplementation and replacing the non-existing parathyroid hormone.  For heart diseases, doctors may prescribe medications or perform surgery to help the heart to function better.  Only at rare times that a thymus transplant or a unique form of bone marrow transplantation be a necessity to produce more T-lymphocytes.  It is also rare for doctors to mandate immunoglobulin replacement therapy.  Doctors concoct strategies, which may include antibiotic prophylaxis and treatment of any allergies, which are aim at preventing bacterial infection.

Resources About DiGeorge Syndrome

Immune Deficiency Foundation

WebMD – Better Health.  Better Information.

Mayo Clinic

American Heart Association – Learn and Live

Lucile Packard Children’s Hospital at Stanford

Resource by S.Lee

I like to read, write, draw, paint, and use computers.

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