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DiGeorge syndrome (22q11.2 deletion syndrome): Causes, Types, Symptoms, Diagnosis ,Treatment , Risk factors , Complications , Prevention

What Is DiGeorge Syndrome (22q11.2 Deletion Syndrome)?

DiGeorge syndrome is a circumstance gift from the start that can cause a variety of lifelong troubles, including heart defects and mastering difficulties.

The severity of the situation varies. Some kids may be significantly ill and very occasionally may die from it, but many others can also develop without realizing they've it.

DiGeorge syndrome is caused by a problem with someone's genes, called 22q11 deletion. It isn't always typically handed directly to an infant by using their parents, however it's far in a few cases.

It's regularly recognized soon after delivery with a blood test to check for the genetic fault.

22q11.2 deletion syndrome (which is also known by several different names, indexed below) is an ailment as a result of the deletion of a small piece of chromosome 22. The deletion takes place near the center of the chromosome at an area targeted q11.2.

22q11.2 deletion syndrome has many viable signs and symptoms and symptoms that can affect nearly any part of the frame. The functions of this syndrome range broadly, even amongst affected members of the equal family. People with 22q11.2 deletion syndrome generally have coronary heart abnormalities which can be regularly present from birth, recurrent infections as a result of troubles with the immune gadget, and special facial capabilities. In affected individuals, the muscle tissues that form the roof of the mouth (palate) won't close absolutely, despite the fact that the tissue masking them does, ensuing in a circumstance called submucosal cleft palate. The abnormal palate is frequently fairly arched and there can be a split within the gentle flap of tissue that hangs from the back of the mouth (bifid uvula). Submucosal cleft palate also can intrude with normal speech through causing air to pop out of the nose at some point of speech, leading to nasal-sounding speech. Affected people might also have breathing troubles, kidney abnormalities, low degrees of calcium within the blood (which can result in seizures), a decrease in blood platelets (thrombocytopenia), considerable feeding difficulties, gastrointestinal issues, and hearing loss. Skeletal differences are feasible, which include moderate short stature and, less regularly, abnormalities of the spinal bones.

Many kids with 22q11.2 deletion syndrome have developmental delays, consisting of behind schedule increase and speech development, and a few have moderate intellectual disability or studying disabilities. Older affected individuals have difficulty studying, appearing duties related to math, and trouble fixing. Children with this condition often need assistance changing and adapting their behaviors while responding to situations. Additionally, affected kids are more likely than youngsters without 22q11.2 deletion syndrome to have interest-deficit/hyperactivity sickness (ADHD) and developmental conditions such as autism spectrum sickness that affect communication and social interplay.

Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, extraordinary groupings of features have been described as separate situations. Doctors named these situations DiGeorge syndrome, velocardiofacial syndrome (also referred to as Shprintzen syndrome), and conotruncal anomaly face syndrome. In addition, some youngsters with the 22q11.2 deletion have been identified with the autosomal dominant shape of Opitz G/BBB syndrome and Cayler cardiofacial syndrome. Once the genetic foundation for these problems became recognized, doctors decided that they were all part of an unmarried syndrome with many feasible symptoms and signs. To keep away from confusion, this situation is commonly called 22q11.2 deletion syndrome, a description based on its underlying genetic reason.

What Is DiGeorge Syndrome (22q11.2 Deletion Syndrome)


Explanation of medical terms and concept DiGeorge syndrome (22q11.2 deletion syndrome)

DiGeorge syndrome, greater correctly recognized by way of a broader time period — 22q11.2 deletion syndrome — is a disease prompted while a small part of chromosome 22 is lacking. This deletion outcomes in the negative development of numerous frame systems.

The time period 22q11.2 deletion syndrome covers phrases once thought to be separate situations, along with DiGeorge syndrome, velocardiofacial syndrome and different issues that have the same genetic purpose, though capabilities may also vary slightly.

Medical troubles usually associated with 22q11.2 deletion syndrome consist of coronary heart defects, terrible immune gadget characteristic, a cleft palate, complications related to low levels of calcium in the blood, and not on time improvement with behavioral and emotional issues.

The number and severity of signs related to 22q11.2 deletion syndrome range. However, almost everyone with this syndrome needs treatment from experts in a selection of fields.

Individuals with 22q11.2 deletion syndrome (22q11.2DS) can be gifted with a huge variety of functions that are rather variable, even inside households. The important scientific manifestations of 22q11.2DS consist of congenital coronary heart sickness, specially conotruncal malformations (ventricular septal illness, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, function facial functions, and studying problems. Hearing loss may be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, relevant worried system, skeletal, and genitourinary anomalies additionally occur. Psychiatric contamination and autoimmune problems are greater common in people with 22q11.2DS.

DiGeorge syndrome (22q11.2 deletion syndrome) is a genetic disorder that causes heart defects, learning disabilities and other medical problems The exact cause of DiGeorge syndrome isn't known In most cases the condition is caused by a missing piece of chromosome 22. This is called a "deletion.

DiGeorge syndrome is named for the doctor who first described it: Dr Angelo DiGeorge, a pediatric cardiologist in 1960. It is also known as velocardiofacial (VCF) syndrome or Shprintzen syndrome DiGeorge syndrome occurs when a person has a missing part of chromosome 22 (known as 22q11.2 deletion syndrome) The symptoms of DiGeorge syndrome vary greatly because they can affect any system in the body The most common symptom is learning disabilities that are associated with developmental delay Other signs and symptoms include: Small head size at birth (microcephaly) Heart defects such as abnormal openings between chambers or holes in the wall separating the chambers of the.

Symptoms DiGeorge syndrome (22q11.2 deletion syndrome)

There is a ramification of physical and behavioral disorders that have been related to 22q11.2 deletion syndrome. The syndrome has the ability to impact every system within the body and may therefore lead to a huge-range of fitness problems.

Signs and symptoms of DiGeorge syndrome (22q11.2 deletion syndrome) can vary in type and severity, relying on what frame structures are affected and the way excessive the defects are. Some symptoms and signs and symptoms may be obvious at start, however others might not appear till later in infancy or early adolescence.

Signs and signs may additionally consist of some mixture of the subsequent:

  • Heart murmur and bluish skin due to poor circulation of oxygen-rich blood (cyanosis) as a result of a heart defect

  • Frequent infections

  • Certain facial features, such as an underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip

  • A gap in the roof of the mouth (cleft palate) or other problems with the palate

  • Delayed growth

  • Difficulty feeding, failure to gain weight or gastrointestinal problems

  • Breathing problems

  • Poor muscle tone

  • Delayed development, such as delays in rolling over, sitting up or other infant milestones

  • Delayed speech development or nasal-sounding speech

  • Learning delays or disabilities

  • Behavior problems

When to see a doctor

Other situations may cause symptoms and signs and symptoms just like 22q11.2 deletion syndrome. So it's essential to get a correct and prompt diagnosis if your infant shows any signs and symptoms or signs and symptoms indexed above.

Doctors might also suspect 22q11.2 deletion syndrome:

  • At birth. If certain conditions — a severe coronary heart defect, cleft palate or an aggregate of different elements regular of 22q11.2 deletion syndrome — are quite simply obvious at delivery, diagnostic checks will likely start earlier than your child leaves the clinic.

  • At well-baby visits. Your circle of relatives, doctor or pediatrician might also suspect the ailment because of a mixture of ailments or issues that grow to be obvious over the years. Other issues may additionally come to the eye of your physician throughout frequently scheduled well-toddler visits or annual checkups in your child.

Causes DiGeorge syndrome (22q11.2 deletion syndrome)

Most human beings with 22q11.2 deletion syndrome are missing a series of approximately 3 million DNA building blocks (base pairs) on one reproduction of chromosome 22 in each cell. This area consists of 30 to forty genes, many of which have now not been nicely characterized. A small percentage of affected people have shorter deletions inside the same location. This circumstance is defined as a contiguous gene deletion syndrome because it results from the lack of many genes which are near collectively.

Researchers are running to perceive all the genes that make contributions to the features of 22q11.2 deletion syndrome. They have decided that the loss of a selected gene on chromosome 22, TBX1, is probably responsible for a number of the syndrome's feature symptoms (which includes coronary heart defects, a cleft palate, unique facial functions, hearing loss, and coffee calcium ranges). Some research suggests that a deletion of this gene might also contribute to behavioral issues as well. The lack of every other gene, COMT, inside the identical region of chromosome 22 may additionally help give an explanation for the multiplied chance of behavioral troubles and intellectual illness. The loss of additional genes within the deleted vicinity likely contributes to the varied functions of 22q11.2 deletion syndrome.

Each character has  copies of chromosome 22, one inherited from every parent. If someone has DiGeorge syndrome (22q11.2 deletion syndrome), one reproduction of chromosome 22 is missing a section that consists of an envisioned 30 to forty genes. Many of those genes haven't been truly recognized and are not well-understood. The region of chromosome 22 that is deleted is known as 22q11.2.

The deletion of genes from chromosome 22 generally occurs as a random occasion inside the father's sperm or within the mother's egg, or it is able to occur early at some point of fetal improvement. Rarely, the deletion is an inherited condition passed to an infant from a parent who also has deletions in chromosome 22 but can also or may not have signs.

Complications

The quantities of chromosome 22 deleted in DiGeorge syndrome (22q11.2 deletion syndrome) play a position within the improvement of some of the body systems. As a result, the disease can cause numerous mistakes at some point of fetal development. Common problems that arise with 22q11.2 deletion syndrome consist of:

  • Heart defects. 22q11.2 deletion syndrome frequently causes heart defects that would bring about an insufficient delivery of oxygen-wealthy blood. For example, defects may also include a hollow between the decrease chambers of the coronary heart (ventricular septal defect); handiest one massive vessel, instead of two vessels, leading out of the coronary heart (truncus arteriosus); or a combination of four atypical heart structures (tetralogy of Fallot).

  • Hypoparathyroidism. The 4 parathyroid glands inside the neck adjust the degrees of calcium and phosphorus within the frame. 22q11.2 deletion syndrome can cause smaller than ordinary parathyroid glands that secrete too little parathyroid hormone (PTH), leading to hypoparathyroidism. This circumstance results in low levels of calcium and excessive ranges of phosphorus within the blood.

  • Thymus gland dysfunction. The thymus gland, located beneath the breastbone, is in which T cells — a sort of white blood mobile — mature. Mature T cells are hard to combat infections. In youngsters with 22q11.2 deletion syndrome, the thymus gland can be small or missing, resulting in terrible immune features and frequent, intense infections.

  • Cleft palate. A commonplace condition of 22q11.2 deletion syndrome is a cleft palate — a gap (cleft) in the roof of the mouth (palate) — with or without a cleft lip. Other, less visible abnormalities of the palate that may additionally be present could make it difficult to swallow or produce sure sounds in speech.

  • Distinct facial features. A quantity of precise facial capabilities may be found in a few humans with 22q11.2 deletion syndrome. These may consist of small, low-set ears, short width of eye openings (palpebral fissures), hooded eyes, a particularly lengthy face, an enlarged nose tip (bulbous), or a short or flattened groove in the upper lip.

  • Learning, behavioral and mental health problems. 22q11.2 deletion may cause troubles with improvement and characteristic of the mind, ensuing in studying, social, developmental or behavioral problems. Delays in little one speech improvement and learning problems are commonplace. Some children expand interest-deficit/hyperactivity disease (ADHD) or autism spectrum ailment. Later in life, the hazard of despair, tension issues and other intellectual health problems increases.

  • Autoimmune disorders. People who had poor immune features as children, because of a small or missing thymus, may additionally have an improved danger of autoimmune problems, consisting of rheumatoid arthritis or Graves' ailment.

  • Other problems. A massive wide variety of medical situations may be related to 22q11.2 deletion syndrome, inclusive of hearing impairment, negative imaginative and prescient, respiration issues, negative kidney feature and comparatively brief stature for one's own family.

Prevention

In a few cases, DiGeorge syndrome (22q11.2 deletion syndrome) may be handed from an affected child to a toddler. If you're worried about your own family records of 22q11.2 deletion syndrome, or if you already have a baby with the syndrome, you could want to seek advice from a doctor who focuses on genetic disorders (geneticist) or a genetic counselor to assist in making plans for future pregnancies.

Diagnosis DiGeorge syndrome (22q11.2 deletion syndrome)

Your child’s healthcare issuer will have a look at your toddler’s prenatal records and complete health and circle of relatives history. They will do a physical examination. Your child may additionally need certain checks.

A prognosis of DiGeorge syndrome (22q11.2 deletion syndrome) is based generally on a lab check which can come across the deletion in chromosome 22. Your physician will probable order this take a look at if your infant has:

  • Blood tests. These are to look for immune system problems.

  • X-ray. This test makes pictures of internal tissues, bones, and organs. 

  • Echocardiography. This test looks at the structure of the heart and how well it is working.

  • Fluorescent in situ hybridization (FISH) studies. This blood check appears at a particular spot within the 22q11.2 place to see if it is deleted. If the FISH check doesn’t discover any deletion in the 22q11.2 place of the chromosome however your toddler has signs and symptoms of the syndrome, they will normally want a full chromosome examination. This will search for other chromosome troubles.

  • Chromosomal microarray. This is similar to a FISH check. But it looks at many regions across all of the chromosomes, which include chromosome 22. This is to discover a missing piece in the 22q11.2 area. This take a look at is carried out greater normally than the FISH test to look for the deletion.

  • A combination of medical problems or conditions suggesting 22q11.2 deletion syndrome

  • A heart defect, because certain heart defects are commonly associated with 22q11.2 deletion syndrome

In a few cases, a child might also have an aggregate of situations that advise 22q11.2 deletion syndrome, however the lab check would not suggest a deletion in chromosome 22. Although those instances give a diagnostic assignment, the coordination of care to address all the medical, developmental or behavioral problems will likely be comparable.

Treatment DiGeorge syndrome (22q11.2 deletion syndrome)

There's currently no remedy for DiGeorge syndrome. Children and adults with the circumstance may be carefully monitored to test for problems, and those can be handled as they appear, if wanted.

Although there's no remedy for DiGeorge syndrome (22q11.2 deletion syndrome), treatments can typically correct important issues, which includes a coronary heart disorder or cleft palate. Other health troubles and developmental, intellectual health or behavioral problems can be addressed or monitored as needed.

Treatments and remedy for 22q11.2 deletion syndrome may include interventions for:

  • Hypoparathyroidism. Hypoparathyroidism can typically be managed with calcium dietary supplements and nutrition D supplements.

  • Heart defects. Most coronary heart defects associated with 22q11.2 deletion syndrome require surgical operation quickly after beginning to restore the heart and improve the supply of oxygen-wealthy blood.

  • Limited thymus gland function. If your baby has a few thymic features, infections can be frequent, but now not necessarily extreme. These infections — typically colds and ear infections — are commonly treated as they could be in any toddler. Most children with confined thymic features comply with the normal time table of vaccines. For most youngsters with moderate thymus impairment, immune gadget function improves with age.

  • Severe thymus dysfunction. If the impairment of the thymus is excessive or there may be no thymus, your child is liable to some excessive infections. Treatment calls for a transplant of thymus tissue, specialized cells from bone marrow or specialized disorder-preventing blood cells.

  • Cleft palate. A cleft palate or other abnormalities of the palate and lip can normally be surgically repaired.

  • Overall development. Your toddler will likely gain from various treatment options, including speech therapy, occupational remedy and developmental remedy. In the United States, early intervention applications supplying those styles of therapy are generally to be had through a country or county health branch.

  • Mental health care. Treatment can be advocated in case your child is later diagnosed with attention-deficit/hyperactivity disease (ADHD), autism spectrum disorder, melancholy, or other intellectual fitness or behavioral problems.

  • Management of other conditions. These may also include addressing feeding and boom troubles, hearing or vision problems, and different medical situations.

Health care team

Because 22q11.2 deletion syndrome can result in such a lot of problems, numerous professionals will probably be involved in diagnosing unique conditions, recommending treatments and providing care. This crew will evolve as your baby's wishes are exchanged. Specialists to your care group may additionally encompass these specialists and others, as needed:

  • Children's health specialist (pediatrician)

  • Expert in inherited disorders (geneticist)

  • Heart specialist (cardiologist)

  • Immune system specialist (immunologist)

  • Ear, nose and throat (ENT) specialist

  • Infectious disease specialist

  • Hormone disorder specialist (endocrinologist)

  • Surgeon who specializes in correcting such conditions as a cleft palate (oral and maxillofacial surgeon)

  • Surgeon who specializes in correcting heart defects (cardiovascular surgeon)

  • Occupational therapist to help develop practical, everyday skills

  • Speech therapist to help improve verbal skills and articulation

  • Developmental therapist to help develop age-appropriate behaviors, social skills and interpersonal skills

  • Mental health professional, such as a pediatric psychiatrist or psychologist

Coping and support

Having a baby with DiGeorge syndrome (22q11.2 deletion syndrome) is tough. You should address numerous treatment problems, manipulate your own expectancies and meet the desires of your baby. Ask your health care crew approximately businesses that offer educational substances, assist businesses and different resources for parents of children with 22q11.2 deletion syndrome.

Preparing for your appointment

Your doctor can also suspect DiGeorge syndrome (22q11.2 deletion syndrome) at beginning, wherein case diagnostic checks and treatment will probably begin earlier than your child leaves the health facility.

Your child's fitness care provider will search for developmental issues at ordinary checkups and come up with the possibility to discuss any issues with your medical doctor. It's critical to take your baby to all often scheduled properly-baby visits and annual appointments.

Here's some information to help you put together for your appointment.

What you can do

If your own family physician or pediatrician believes that your child indicates signs and symptoms of 22q11.2 deletion syndrome, primary question to invite include:

  • What diagnostic tests will be needed?

  • When will we know and how will we get the results of the tests?

  • What specialists will you refer us to?

  • What medical conditions related to this syndrome need to be addressed right now? What's our highest priority?

  • How will you help me monitor my child's health and development?

  • Can you suggest educational materials and local support services regarding this syndrome?

  • What services are available for early childhood development?

What to expect from your doctor

Be prepared to answer questions the doctor may ask, such as:

  • Does your baby have any problems feeding?

  • Does your baby seem listless, weak or sick?

  • Is your child reaching certain milestones in development, such as rolling over, pushing up, sitting up, crawling, walking or speaking?

  • Do you observe any behaviors that concern you?

General summary

Digeorge syndrome (22q11.2 deletion syndrome) also known as velocardiofacial syndrome is a genetic disorder caused by the loss of genetic material from chromosome 22. In most cases the deletion occurs in one of the first 22 pairs of chromosomes The symptoms of Digeorge syndrome vary widely among patients Symptoms may include problems with swallowing and breathing heart defects and kidney malformations Other common symptoms include cleft palate or lip facial abnormalities and learning disabilities.

How do you treat someone with DiGeorge syndrome?

DiGeorge syndrome also known as 22q11.2 deletion syndrome is caused by a missing piece of chromosome 22. This missing piece causes the body to produce extra copies of certain genes The symptoms of DiGeorge syndrome vary from person to person and can include heart defects; slow growth before birth; cleft palate; low calcium level in the blood; abnormal development of teeth and jaws; learning disabilities; poor muscle tone (hypotonia); and hearing loss Patients with DiGeorge syndrome may also have behavioral problems such as attention deficit hyperactivity disorder anxiety depression and severe tantrums.

Can someone with DiGeorge syndrome live a normal life?

People with DiGeorge syndrome or DGS are at high risk for developing behavioral and psychological problems This is because this disorder causes the body to produce an abnormal amount of parathyroid hormone which is responsible for regulating calcium levels in the blood People with this disorder also have a higher than normal risk of developing certain types of cancer as well as heart disease and other medical conditions However many people with DGS live a normal life span As children they may need to undergo surgery to correct abnormalities in their hearts or jaws Adults with DGS often need extra calcium and vitamin D supplements Regular monitoring by an endocrinologist can help detect any health problems early enough so that they can be treated.

Is DiGeorge syndrome the same as 22q11 2?

DiGeorge syndrome (also known as velocardiofacial syndrome) is a genetic disorder that causes defects in the development of the heart bones and nervous system The syndrome is named for Drs Angelo DiGeorge and Victor A McKusick who discovered the syndrome independently during the 1950s Since then researchers have found that DiGeorge syndrome is caused by a deletion of chromosome 22q11.2 which contains between 40 to 100 genes The severity of symptoms varies from person to person but typically includes congenital heart defects abnormalities of the head and face learning disabilities and a higher incidence of autism spectrum disorders In most cases these symptoms are easily recognizable at birth or during infancy but some people with the condition.

Is 22q11 a disability?

The answer to this question is a resounding YES! Most people with 22q11 don’t consider themselves disabled but many of the challenges they face in daily life are caused by their condition The most common challenges are learning disabilities and difficulty communicating Other challenges include anxiety, depression and social awkwardness.

Can DiGeorge syndrome be cured?

DiGeorge syndrome can be cured but there is no known cure at this time However in many cases the symptoms of DiGeorge syndrome can be treated with medication and/or surgery For example hypoparathyroidism can be treated with medication that replaces the missing parathyroid hormone Cardiac abnormalities caused by DiGeorge syndrome can also be corrected with surgery.

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DiGeorge syndrome (22q11.2 deletion syndrome): Causes, Types, Symptoms, Diagnosis ,Treatment , Risk factors  , Complications , Prevention

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