DiGeorge syndrome refers to a condition characterized by retarded development of different body systems. It is caused due to presence of a defect in chromosome 22. Medically, DiGeorge syndrome is known as 22q11.2 deletion syndrome
There are a number of health problems that accompany DiGeorge syndrome. A few such complications include dysfunction of the immune system, behavioral disorders, diseases resulting from lack of calcium in the body, cleft palate, and heart defects.
The severity level of DiGeorge syndrome including the associated health complications tend to differ from one patient to another. A majority of the affected individuals have to seek treatment from different types of specialists
Initially, DiGeorge syndrome was referred to by different names such as velocardiofacial syndrome, etc., before the cause was identified as an error occurring in chromosome 22. One may note that despite the fact that the term ‘‘22q11.2 deletion syndrome’’ is often used in the current circumstance and which undoubtedly describes the condition, the older names of the condition are also recognized and used today.
DiGeorge Syndrome Symptoms
The signs and symptoms of DiGeorge syndrome tend to differ as per the severity and type. Such difference is related to the count of body systems that get affected, as well as the severity of such irregularities. A few symptoms may be visible at birth, but a majority of them often appear during late infancy or early childhood.
Some of the symptoms of DiGeorge syndrome are discussed below:
- The skin tends to have a bluish tone due to poor circulation of the oxygen abundant blood
- Children with DiGeorge syndrome fail to add weight
- Weakness and easy fatigue is observed
- Incapacity to flourish
- The muscle mass or muscle tone is poor
- One may notice spasms or tremors affecting the hands, arms or areas around the throat and/or the mouth
- Shortness of breath and other conditions of the respiratory system
- Cleft palate and other disorders involving the palate
- Sitting up, crawling, walking, rolling over and other developmental milestones along with the overall development may experience delays
- Increased number of infections
- Problematic feeding
- Distinct facial characteristics are present such as hooded or wide-set eyes, low set ears, a predominantly lengthened face, and a flattened, narrow or very short groove occurring in the upper lip
- Delays in development of speech
- Deficits or problems in learning
Some of the complications associated with DiGeorge syndrome include malfunction of the thymus gland, autoimmune conditions, heart defects, hypoparathyroidism, difficulties of vision, a shorter stature as compared to the average height of family members, hearing abnormalities, behavioral, learning and mental disabilities and kidney anomalies.
Causes of DiGeorge syndrome
- DiGeorge syndrome is caused when a part of chromosome gets deleted. All human beings have two copies of chromosome 22, with each copy inherited from each parent. The chromosome 22 contains an estimated 500 to 800 genes
- Individuals affected by DiGeorge syndrome have a chromosomal 22 defect, wherein one copy does not contain a specific section that comprises of 30 to 40 genes. A majority of these genes are not clearly understood or completely identified by the researchers. This missing segment of chromosome 22 in DiGeorge syndrome patients is called 22q11.2. A few individuals affected by DiGeorge syndrome may experience a shorter part of the same section that goes missing in chromosome 22.
- The elimination of genetic matter from chromosome 22 typically tends to happen at random, during the time of development of the sperms or the eggs, or during the early stages of conception. Hence, there is duplication of the chromosomal 22 defect in almost every cell, or most of the cells present in the body, at the time of fetal development
DiGeorge Syndrome Treatment
- DiGeorge syndrome has no known cure as yet. Treatment of the condition is aimed at rectifying the associated abnormalities and managing the symptoms
- Cardiac anomalies, cleft palate and other physical defects are corrected with medicines or surgical intervention
- Restrictive functioning of the thymus gland can elevate the vulnerability to infections. However, they are usually mild and cause cold or persistent ear infections, etc. They are rectified as per normal treatment methods. Children with impaired thymic functionality can continue with the usual vaccine routines, as the immune system becomes stronger with advent into adulthood
- Thymic function that is severely limited, or an absent thymus gland can cause serious infections. The treatment includes transplantation of specific cells from the bone to the thymus tissue, or specific blood cells transplantation that posses the capability to fight off infections
- Speech deficits, behavioral, social and other types of psychological disorders associated with DiGeorge syndrome can be corrected via counseling and other forms of psychological therapy
- Treatment of hypoparathyroidism includes consumption of calcium and vitamin D supplements along with a low phosphorus diet. With the passage of time, children with DiGeorge syndrome who still have a sufficient intact section of the parathyroid organ may stop following this type of controlled diet. This is due to the fact that the parathyroid gland becomes capable enough to regulate the calcium and phosphorus levels on its own, with an increase in the patient’s age.
DiGeorge Syndrome Pictures