Description

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a condition that occurs when a small part of chromosome 22 is missing. This elimination of the causes of the various body systems to develop bad.

The term 22q11.2 deletion syndrome covers terms once thought to be different conditions. These terms include the DiGeorge syndrome, velocardiofacial (vel-oh-cahr-dee-ah-fay-shell) down syndrome and other conditions caused by the same missing part of chromosome 22. But the features may vary slightly.

Medical problems commonly associated with the 22q11.2 deletion syndrome include heart problems, decreased immunity, cleft palate, complications of low levels of calcium, various eye problems, and autoimmune disorders. Complications include hearing loss, skeletal differences, renal, and genital differences, and developmental delay with behavioral and emotional problems.

The number and the severity of the symptoms associated with the 22q11.2 deletion syndrome vary. But specialists in the various fields of the need for the treatment of almost all people with this syndrome.

Symptoms

The symptoms of DiGeorge syndrome can vary depending on what systems of the body are affected and the severity of the problems. Some symptoms may be apparent at birth, but others may not appear until later in childhood or as a child or as an adult.

The symptoms of DiGeorge syndrome may include:

  • Heart problems, such as problems with the structure of the heart and blood vessels, or a heart murmur and bluish skin due to poor circulation of the blood, also known as cyanosis.
  • Frequent infections.
  • Distinctive facial features, such as an underdeveloped chin, ears that seem different, wide-set eyes, hooded eyes, and an enlarged tip of the nose. Asymmetric crying facies may also be present. This is when the muscles on one side of the mouth does not develop completely, causing that side of the mouth to decline when the crying, but the face looks balanced at rest.
  • A gap in the roof of the mouth, also known as cleft palate, or other problems with the palate.
  • A hard time feeding, failure to gain weight or stomach problems.
  • The hearing loss.
  • Lack of muscle tone.
  • Kidney problems.
  • Problems of vision and other eye problems.
  • Low levels of calcium in the blood.
  • The scoliosis.

Other symptoms may include:

  • Growth retardation.
  • Developmental delays, such as delays in rolling over, sitting up or other baby milestones.
  • Delayed development of speech or nasal-sounding voice.
  • Learning delays or disabilities.
  • Behavior problems.

When to see a doctor

Other conditions can cause symptoms such as 22q11.2 deletion syndrome. It is important to get the right diagnosis quickly if your child develops any of the symptoms listed above.

Health professionals may suspect 22q11.2 deletion syndrome:

  • In the birth. If a serious heart problems, cleft palate or other signs typical of 22q11.2 deletion syndrome are clear at birth, the tests will probably be done before the child leaves the hospital.
  • In the baby visits. Diseases or conditions that are typical of 22q11.2 deletion syndrome may be revealed over time. Your child's healthcare provider can see the problems during regularly scheduled routine visits or annual routine.

Causes

Each person has two copies of chromosome 22 — one inherited from each parent. If a person has DiGeorge syndrome, one copy of chromosome 22 is missing a segment that includes an estimate of 30 to 40 genes. Many of these genes have not been clearly identified and not well understood. The region of chromosome 22 that is removed is known as 22q11.2.

The deletion of genes from chromosome 22 usually occurs as a random event in the father's sperm or the mother's egg. Or it may occur early, when the baby is developing. Rarely, the removal is passed to a child of a parent who also has a deletion on chromosome 22, but may have fewer or mild symptoms.

Risk factors

Babies who are missing a piece of chromosome 22, specifically the region known as 22q11.2, are at greater risk of DiGeorge syndrome. This lack of part of the causes of the various body systems to develop bad.

Complications

Portions of chromosome 22 missing in the DiGeorge syndrome, affect the development of several body systems. As a result, the condition may cause various errors during fetal development.

  • Problems of the heart. 22q11.2 deletion syndrome often causes heart problems that could lead to very low blood rich in oxygen. For example, the problems may include a hole between the lower chambers of the heart, also known as a ventricular septal defect. Or you may just be one of the larger vessels, in place of two vessels leaving the heart, also known as the truncus arteriosus. Or you can have four problems with the structure of the heart, also known as tetralogy of Fallot.
  • Hypoparathyroidism. The four parathyroid glands in the neck regulate the levels of calcium and phosphorus in the body. 22q11.2 deletion syndrome can cause the parathyroid glands to be smaller than usual, and produce too little parathyroid hormone. This leads to hypoparathyroidism. This condition results in low levels of calcium and phosphorus levels in the blood.
  • Thymus gland dysfunction. The thymus gland, which is below the breastbone, is where T-cells, a type of white blood cells mature. Mature T cells help fight infections. In children with 22q11.2 deletion syndrome, the thymus gland may be small or non-existent. This leads to poor immune function and more frequent, severe infections.
  • The cleft palate. A common condition of 22q11.2 deletion syndrome is a cleft palate, which is an opening in the roof of the mouth, with or without cleft lip. Other, less visible problems with the structure of the palate may make it difficult for you to swallow or make certain sounds in the speech.
  • Distinct facial features. A number of facial features can be present in some people with 22q11.2 deletion syndrome. These may include small, low-set ears, short, wide eye openings (palpebral fissures), hooded eyes, a relatively long face, an enlargement of the tip of the nose (bulb), or a short or flattened slot in the top of the lip.
  • Learning, behavioral and mental health problems. 22q11.2 deletion syndrome can cause problems with the development and function of the brain, which results in the learning, social, developmental, or behavioral problems. The delays in the child's development of speech and learning difficulties are common. Some children develop attention-deficit/hyperactivity condition (ADHD) or autism spectrum disorder. Later in life, the risk of depression, anxiety and other mental health disorders is greater.
  • Autoimmune conditions. People with 22q11.2 deletion syndrome may also have an increased risk of developing autoimmune diseases, such as rheumatoid arthritis or Graves disease.
  • Other problems. Many medical conditions can be related to 22q11.2 deletion syndrome, such as hearing problems, eye problems, and poor renal function.

Prevention

In some cases, an affected parent can pass the DiGeorge syndrome to a child. If you are concerned about a family history of 22q11.2 deletion syndrome, or if you already have a child with down syndrome, you may want to see a doctor who specializes in genetic diseases. This doctor is called a geneticist. Or you may want to see a genetic counselor to help plan future pregnancies.

Diagnosis

A diagnosis of DiGeorge syndrome (22q11.2 deletion syndrome) is based mainly on a laboratory test that can detect the deletion in chromosome 22. Your child's healthcare provider will likely order this test if your child has:

  • A mixture of medical problems or conditions suggesting 22q11.2 deletion syndrome.
  • A problem of the heart due to certain heart problems are commonly associated with 22q11.2 deletion syndrome.

In some cases, a child may have a combination of conditions that suggest 22q11.2 deletion syndrome, but the laboratory test does not suggest a lack of part of chromosome 22.

Treatment

Although there is no cure for DiGeorge syndrome (22q11.2 deletion syndrome), treatment can usually be correct critical problems, such as a heart problem or cleft palate. Other health problems, as well as the development, mental health or behavior problems, can be treated or seen as necessary.

Treatments and therapies for 22q11.2 deletion syndrome may include treatments for:

  • Hypoparathyroidism. Take calcium and vitamin D supplements as directed by your health care professional can often manage hypoparathyroidism. In some cases, other supplements may also be recommended.
  • The problems of the heart. Most of the heart problems associated with 22q11.2 deletion syndrome require surgery shortly after birth to repair the heart and make the supply of oxygen-rich blood better.
  • Limited in function of the thymus gland. If your child has any, the function of the thymus, the infections may be frequent, but not necessarily serious. These infections usually colds and ear infections — they are generally treated as in any child. The majority of children with limited thymic function follow the usual schemes of vaccination. The function of the immune system improves with age for most children whose thymus has been moderately damaged.
  • Severe thymic dysfunction. If the damage to the thymus is serious or not there is timo, your child is at risk of several serious infections. The treatment may require a transplant of tissue from the thymus and the specialized cells of the bone marrow or specialized disease-fighting cells of the blood.
  • The cleft palate. A cleft palate or other unusual features of the lip or palate usually can be repaired by surgery.
  • The development in general. Your child is likely to benefit a wide range of therapies, such as speech therapy, occupational therapy and developmental therapy. In the united states, early intervention programs, the provision of these types of therapy are generally available through a state or county health department.
  • Mental health care. The treatment may be recommended if your child is later diagnosed with attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, depression, or other mental health or behavioral condition.
  • The management of other conditions. These conditions may include the feeding and growth of the issues, hearing or vision problems, and other medical conditions.

The health care team

Because 22q11.2 deletion syndrome can lead to many problems, several specialists will likely help you diagnose specific conditions, recommend treatments and the provision of care. This team will change as your child's needs change.

Specialists on your child's care team may include these professionals and others, as needed:

  • Children's healthcare specialist, also known as a pediatrician.
  • Expert in hereditary diseases, also known as a geneticist.
  • Heart specialist, also known as a cardiologist.
  • Immune system specialist, also known as an immunologist.
  • Ear, nose and throat specialist, also called an ENT.
  • Infectious diseases specialist.
  • The hormone of the condition of specialist, also known as an endocrinologist.
  • Surgeon who specializes in the fixing of conditions such as cleft palate, also known as an oral and maxillofacial surgeon.
  • Surgeon who specializes in the correction of problems of the heart, also known as a cardiovascular surgeon.
  • Occupational therapist to build practical, everyday skills.
  • Speech therapist to improve the ability to speak.
  • Therapist development to develop age-appropriate behaviors and social skills.
  • Mental health professional, such as a pediatrician, psychiatrist or psychologist.

Coping and support

Having a child with DiGeorge syndrome (22q11.2 deletion syndrome) is a challenge. You could be dealing with multiple health problems and treatments. To help find his son and to his own needs, ask your health care team about organizations that offer educational materials, support groups and other resources for parents of children with 22q11.2 deletion syndrome.

Preparing for your appointment

Your child's doctor or other health care professional may be suspected DiGeorge syndrome at birth. If so, the tests and the treatment will likely begin before your child leaves the hospital.

Your child's health care professional to look for problems of development in the regular checkups and talk about any concerns. It is important to take your child to all regularly scheduled well-baby visits and appointments.

Here's some information to help you prepare for your child's appointment.

What you can do

If your family healthcare provider or pediatrician believes that your child shows signs of 22q11.2 deletion syndrome, basic questions to ask include:

  • What tests are needed?
  • When are we going to get the results of the test?
  • What the specialists are going to refer to my child?
  • What medical conditions associated with this syndrome will have to be dealt with now? What medical condition is more important?
  • How will you help me to detect problems with my child's health and development?
  • You can suggest educational materials and local support services about this syndrome?
  • What services are available for the early childhood development?

What to expect from your doctor

Be prepared to answer the questions that the health care provider may ask, such as:

  • Does your child have feeding problems?
  • Does your child seems listless, weak, or sick?
  • Is your child's achievement of certain development milestones, such as rolling over, pushing up, sitting up, crawling, walking or talking?
  • Do you see any of the behaviors that concern you?

Be prepared for these questions will help you make the most of your time with your child's health care professional.

Symptoms and treatment of DiGeorge syndrome (22q11.2 deletion syndrome)