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DiGeorge Syndrome

Definition


Disease: DiGeorge Syndrome DiGeorge Syndrome
Category: Endocrine and metabolic diseases

Disease Definition:

The disorder that results from a defect in chromosome 22 is called DiGeorge syndrome (22q11.2 deletion syndrome); the poor development of many body systems is the result of this syndrome. Heart defects, a cleft palate, poor function of the parathyroid glands and behavioral disorders, and poor immune system function all are medical problems related to DiGeorge syndrome.

 

There’s an immense difference between the number and severity of problems related to DiGeorge syndrome. Treatment from specialists in different fields is required for nearly everyone suffering from DiGeorge syndrome. Before the chromosome 22 defect was discovered, the disorder was referred to by many names such as velocardiofacial syndrome, DiGeorge syndrome and others. The former names of this disorder are still used, despite the fact that the term ‘22q11.2 deletion syndrome’ is commonly used nowadays and is a more accurate description.
 

Work Group:


Symptoms, Causes

Symptoms:

DiGeorge syndrome signs and symptoms differ in an obvious manner in kind and severity, depending on how severe the defects are and which body systems are affected. While certain signs and symptoms might not be apparent until later in infancy or early childhood, others might show at birth. The signs and symptoms of this syndrome may be a combination of the following:

 

  • Failure to thrive
  • Frequent infections
  • Bluish skin due to poor circulation of oxygen-rich blood
  • Breathlessness
  • Some facial features, like low-set ears, wide-set eyes or a narrow groove in the upper lip
  • Delayed speech growth
  • Failure to gain weight
  • Weakness or tiring easily
  • Learning delays or difficulties
  • Delayed growth, like delays in rolling over, sitting up or other infant milestones
  • Twitching or spasms around the mouth, arms, throat or hands
  • A gap in the roof of the mouth (cleft palate) or other problems with the palate
  • Poor muscle tone
  • Difficulty feeding

 

Any number of conditions might result in signs and symptoms of DiGeorge syndrome, which is why it is necessary for the affected person to get immediately diagnosed as soon as signs and symptoms of the disorder are apparent.
 

Causes:

Problems in the chromosomes within a baby’s cells are the reason underlying DiGeorge syndrome. There’s a missing part of chromosome 22 in most babies with this condition. There might be other chromosome abnormalities in some rare cases that result in DiGeorge syndrome, like a defect in chromosome 10. No chromosome abnormality is detected in some babies with DiGeorge syndrome. This syndrome results from the deletion of a part of the chromosome 22. Each person has two copies of chromosome 22, one inherited from each parent, containing an estimated 500 to 800 genes.

 

In case someone is diagnosed with DiGeorge syndrome, one copy of chromosome 22 is then missing a part that contains an estimated 30 to 40 genes. Several of these genes haven’t been identified and aren’t completely understood. 22q11.2 is the part that’s deleted in this condition. A minority of people suffering from DiGeorge syndrome have a shorter deletion in the same part of chromosome 22. The deletion of genes from chromosome 22 often occurs in a random way, either in the father’s sperm or in the mother’s egg or it might happen as early as during fetal growth, which is why the deletion occurs in entire or almost entire cells in the body as the fetus grows.

 

EFFECT OF THE CHROMOSOMAL DELETION:

Chromosome 22 parts that are deleted in DiGeorge syndrome immensely affect the growth of a number of body systems, which is why the disorder could cause many errors throughout fetal growth. The followings are typical problems taking place with DiGeorge syndrome:

 

Thymus gland dysfunction:

Positioned beneath the breastbone, the thymus gland in children produces disease-fighting antibodies from white blood cells. When the baby grows older, the thymus reduces in size and other parts of the body take over the role of the thymus in the immune system. Children suffering from DiGeorge syndrome have a thymus gland that is either small or missing in the first place, causing poor immune function and severe infections that occur frequently.

 

Hypoparathyroidism:

The four parathyroid glands are oval, grain-of-rice-sized glands positioned in the neck. These glands keep proper levels of calcium and phosphorus in the body by turning off or on the secretion of parathyroid hormone (PTH). DiGeorge syndrome could cause smaller than normal parathyroid glands that secrete too little PTH (hypoparathyroidism). Low levels of calcium and high levels of phosphorus in the blood are caused by hypoparathyroidism.

 

Heart defects:

DiGeorge syndrome usually results in heart defects that might be the outcome of an insufficient supply of oxygen-rich blood for the body. A hole between the lower chambers of the heart, a condition called ventricular septal defect; only one large vessel, rather than two vessels leading out of the heart, a condition called truncus arteriosus; and a combination of four abnormal heart structures, a condition called tetralogy of Fallot; might all be listed among the defects mentioned above.

 

Cleft palate:

A cleft palate is a typical condition resulting from DiGeorge syndrome, which is an opening (cleft) in the roof of the mouth (palate). Other, not much noticeable abnormalities of the palate might also exist that could make it hard for one to swallow or produce some sounds in speech.

 

Facial features:

Sometimes, DiGeorge syndrome might cause distinct facial features such as small, low-set ears; wide-set eyes; a short or flattened groove in the upper lip; or a relatively long face.

 

Learning, behavioral and mental health problems:

The 22q11.2 deletion might result in problems with the growth and functioning of the brain, causing learning, social, behavioral and developmental problems. Typical problems as difficulties in learning or delays in toddler speech growth might occur. Several children suffering from the condition develop disorders like attention-deficit/hyperactivity disorder, autism-related disorders or autism. Later in life, people suffering from DiGeorge syndrome are at a high risk of mental health problems such as anxiety disorders, schizophrenia, depression, among other psychiatric disorders.

 

Other problems:

Several medical conditions might be related to DiGeorge syndrome such as poor vision, poor kidney function and relatively short stature for one’s family and hearing impairment.
 

Complications

Complications:

Treatments can usually correct several of the critical and immediate problems related to DiGeorge syndrome, including poor immune system function, cleft palate, calcium deficits and heart defects. Yet, a great number of people go through long-term complications related to the disorder, such as:

  • Delays in physical, emotional or behavioral development
  • Possible mental health disorders
  • Learning disabilities
  • Poor behavioral or social skills

 

When a small or missing thymus causes people to have poor immune function as children, they may have a raised risk of autoimmune disorders later in life, like Graves’ disease and rheumatoid arthritis.
 

Treatments:

DiGeorge syndrome is not a curable condition. Though treatments could often correct critical problems like low calcium levels or a heart defect. It could be a tough thing to be able to care for developmental, behavioral or mental health problems whereas the results might be less expected. Interventions for the below mentioned conditions might be included within the treatments and therapy for people suffering from DiGeorge syndrome:

 

Hypoparathyroidism:

Calcium supplements, vitamin D supplements and a low-phosphorus diet might often be able to control hypoparathyroidism. In case sufficient parathyroid tissue is intact, it’s probable for the child’s parathyroid glands to be able to eventually regulate calcium and phosphorus levels with no specific diet to be provided.

 

Limited thymus gland function:

In case the child has certain thymic function, infections may occur frequently, but they don’t have to be severe. These infections, which are usually frequent colds and ear infections, are in general treated as they would be in any child. Most children with limited thymic function follow the normal schedule of vaccines. Immune system function will get better for most children suffering from moderate thymus impairment as they grow older.

 

Severe thymus dysfunction:

In case impairment of the thymus is severe or there isn’t a thymus gland in the first place, the child will be susceptible to severe infections. A transplant of thymus tissue, specialized cells from bone marrow, or specialized disease-fighting blood cells might be included within the treatment.

 

Cleft palate:

A cleft palate or other abnormalities of the palate could often be surgically fixed.

 

Heart defects:

Most heart defects related to DiGeorge syndrome need surgery to repair the heart and correct blood circulation.

 

Overall development:

There might be a wide range of therapies that help a child with DiGeorge syndrome; for instance speech therapy to make their verbal skills and articulation better, occupational therapy to teach everyday skills and developmental therapy to learn age-appropriate behaviors, social skills and interpersonal skills.

 

Mental health care:

In case the child is diagnosed with attention-deficit/hyperactivity disorder, schizophrenia, depression or any other mental health or behavioral disorders, psychotherapy and psychiatric medications might be recommended.
 

Prognosis:

Not available

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