DiGeorge syndrome is a type of chromosomal disorder in which the 22nd chromosome is missing or gets affected. It is also known by its border term 22q11.2 deletion syndrome. It results in weak growth of the body system and other medical complications, such as heart defect, behavioral problems, and cleft palate.
About 90% of the people with DiGeorge syndrome have a minute deletion on the 22nd chromosome located at the q11.2. This deletion causes several other syndromes that now fall under the 22q11.2 deletion syndrome. Other syndromes may also include, such as velocardiofacial syndrome, conotruncal syndrome, Shprintzen syndrome, and CATCH22.
Medical complications associated with 22q11.2 deletion syndrome include the weak immune system, heart defects, cleft palate, complications related to the low level of calcium in the blood, and delayed development with behavioral and emotional problems.
DiGeorge syndrome has affected approximately 1 in 4,000 people widely caused due to underdiagnosis and misdiagnosis.
The symptoms of DiGeorge syndrome vary with its type and severity. However, people suffering from DiGeorge syndrome have to undergo treatments from specialists in a variety of fields.
What Are DiGeorge Syndrome Symptoms?
The symptoms of DiGeorge syndrome depend on the type and severity of DiGeorge syndrome, and on the medical condition of the body, which is being affected by the syndrome. Out of which some of the signs of DiGeorge syndrome may appear in birth, and some might appear in early adulthood.
If a child is suffering from DiGeorge syndrome, he might experience signs and symptoms of DiGeorge syndrome that includes:-
- Difficulty in learning how to walk, talk, and other essential developmental and learnings
- Loss of vision
- Hearing problem
- Difficulty in feeding the baby
- Getting infections frequently
- Short stature
- The problem in bone, spine, and muscles while growing
- Abnormal facial features, such as underdeveloped chin, low set ears, and wide-set eyes
DiGeorge syndrome may also lead to heart problems, such as:-
- Ventricular septal defect(hole between the lower heart chamber)
- Truncus arteriosus(missing heart vessel)
- Tetralogy of Fallot(a combination of four abnormal heart structure)
- Heart murmur and bluish skin due to the insufficient circulation of oxygen (cyanosis) causing heart defect
Some other wide ranges of signs and symptoms of DiGeorge syndrome involve:-
- A cleft palate or other problems related to the palate
- Delayed growth
- Unable to gain weight or gastrointestinal problems
- Difficulty in breathing
- Poor muscle tone
- Learning delays or disabilities
- Behavior problems, such as ADHD
- High risk of some psychiatric disorder, such as schizophrenia
- Risks of autoimmune diseases, such as idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, autoimmune arthritis, and autoimmune thyroid disease
- Parathyroid gland abnormalities, such as hypoparathyroidism that leads to abnormal calcium and phosphorus metabolism and sometimes seizures
- Complications in thymus glands, such as small, underactive thymus
- Hearing impairment
- Visual abnormalities
- Kidney function
As there are various types of DiGeorge syndrome, the particular type which is affecting the victim can be determined by identifying the organ system which is affected. This syndrome can become evident during birth in infants or during early childhood.
The signs and symptoms of DiGeorge syndrome are similar to other conditions. Therefore it’s essential to know the accurate and prompt diagnosis if a child shows symptoms as listed below:-
- At the time of birth, the doctor will perform specific medical diagnoses before leaving the hospital to detect conditions, such as severe heart defect, cleft palate, or a combination of other factors typical 22q11.2 deletion syndrome.
- The doctor may identify the symptoms after looking at the combination of illness or disorders that become apparent with time. Other issues may also be detected after the thorough checkup of the baby.
DiGeorge Syndrome Diagnosis
If the doctor suspects the DiGeorge syndrome symptoms in the child or any signs and symptoms of heart defect, he may request a FISH (Fluorescent In Situ Hybridization) analysis. It is the most common diagnosis through blood tests.
Certain types of heart defects can lead to DiGeorge syndrome strongly, and therefore it is essential to detect any heart defects in such situations.
DiGeorge Syndrome Treatment
Treatment for DiGeorge syndrome depends on the organ systems involving a wide range of health professionals which includes:-
- Infectious disease specialists
- Therapists(occupational, physical, speech, developmental and mental)
DiGeorge syndrome is of different types, and the treatment involved depends on the kinds of a syndrome caused.
Hypoparathyroidism: DiGeorge syndrome treatment involves supplements with vitamin D or calcium and parathyroid hormone.
Limited thymus gland function affects the immune system’s ability to fight against the infection, causing frequent mild or moderate infections. Treatment and vaccine schedule is the same for the children who are not suffering from DiGeorge syndrome. The immune system generally becomes stronger with time as the child becomes older.
Severe thymus dysfunction may cause severe infection. Thymus tissue transplantation, bone marrow transplantation, stem cell transplant, or transplant of disease-fighting blood cells are considered necessary.
Other treatments, such as surgical repair, are essential for cleft palate and heart defects. Physiotherapy, educational, and language support are some examples of treating such syndrome development. Mental health disorder is also essential as it is linked with DiGeorge syndrome, and therefore it is necessary to be treated.
DiGeorge Syndrome Complications
DiGeorge syndrome plays a vital role in the development of the various systems of the body, and the absence of this can cause abnormal growth. Common problems that a person having DiGeorge syndrome are:-
- Heart defects: DiGeorge syndrome generally causes heart defects that lead to an insufficient supply of oxygen through the blood to the body parts. It may cause defects, such as ventricular septal defect(hole between the lower chambers of the heart), Truncus arteriosus(one large vessel instead of two vessels passing out of the heart), or tetralogy of Fallot(a combination of four abnormal heart structure).
- Hypoparathyroidism: There are four parathyroid glands in the neck that are responsible for the regulation of calcium and phosphorus in the body. DiGeorge syndrome causes inflammation in these glands causing parathyroid glands to secrete less amount of parathyroid hormone(PTH) that results in hypoparathyroidism. This is a condition that results in a low level of calcium and a high level of phosphorus in the blood.
- Thymus gland dysfunction: The thymus gland is located beneath the breastbone, where T cells(a type of white blood cells) are located to become mature. These mature T cells are responsible for fighting against infections or foreign intruders.
DiGeorge syndrome causes these glands to become small, or in some cases, it is absent that results in poor immune function and getting a severe infection frequently.
- Cleft palate: One of the most common complications is a cleft palate. It is an opening in the roof of the mouth(palate) with or without a cleft tip, and this opening is called cleft. There is a chance of developing other palates that can increase difficulty in swallowing or can produce certain sounds while speaking.
- Distinct facial features: DiGeorge syndrome may cause several particular facial features, such as small, low set ears, hooded eyes, short width of eye openings(palpebral fissures), a relatively long face, an enlarged nose tip, or a short flatted groove in the upper lips.
- The problem in learning, behavioural and mental health: DiGeorge syndrome creates complications, such as abnormal development and function of the brain that automatically results in learning, social, or developmental-behavioural problems. Delay in toddler speech development and learning difficulty are usual complications associated with DiGeorge syndrome.
Some children may also develop attention-deficit/hyperactivity disorder(ADHD) or autism spectrum disorder that can increase the risk of depression, anxiety disorder, and other mental health disorders later in life.
- Autoimmune disorder: DiGeorge syndrome weakens the immune system that will cause certain complications, such as autoimmune disorders- rheumatoid arthritis or Graves’disease. These complications occur because of the improper functioning of the immune system, which is caused due to small or missing thymus.
- Other problems: There are other medical complications associated with DiGeorge syndrome that include hearing impairment, weak kidney function, loss of vision, breathing problems, and relatively short stature for one’s family.
Preventive Measures For DiGeorge syndrome
DiGeorge syndrome is a genetic disorder that is inherited from the parents. In case you have a family history of having DiGeorge syndrome and you are concerned about it, you should consult a doctor who specializes in genetic disorder(geneticist) or a genetic counselor that can help you in planning for future pregnancy.