Symptoms and Treatment of Digeorge Syndrome

Symptoms of Digeorge Syndrome

The symptoms of digeorge syndrome change greatly between individuals. The baby's eye defects may head to eye bankruptcy, or there may be seizures and new evidence of a reduced degree of calcium in the blood. Babies with digeorge syndrome are born with a kind of distinct problems, some or all of which may be existing to varying degrees. The parathyroid glands in the neck may have failed to develop, leading to low levels of calcium in the blood. This can result in muscle spasms and seizures. There may be a typical facial appearance with a small jaw, small, low-set ears with abnormal folds, unusual eyes, small mouth, a rather bulbous nose and square nasal tip, and hypernasal speech with a cleft palate. Sometimes the syndrome won't be detected until later in infancy, especially when problems are mild. Sometimes babies with digeorge syndrome have no detectable chromosome abnormality.

Treatment of Digeorge Syndrome

Diseorge anomaly usually is diagnosed shortly after birth because of abnormal facies or cardiac manifestations. Digeorge syndrome can't be cured, but treatment of problems such as low calcium, surgery for heart problems and thymus cell transplants to restore the immune system can reduce complications. Prenatal testing for Digeorge syndrome is widely available and is recommended for fetuses that have been detected as having cleft palate or heart malformation through ultrasound, and have at least one parent testing positive for the 22q11 microdeletion. Hypoparathyroidism and hypocalcemia are managed with calcium supplements and vitamin D administration. The goals of pharmacotherapy are to prevent calcium deficiency, reduce morbidity, and prevent complications. Severe cases have been treated by transplantation of fetal thymus tissue or bone marrow.

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What is Digeorge Syndrome?

DiGeorge syndrome is characterized by a few specific cardiac malformations, a sub-set of facial attributes, and certain endocrine and immune anomalies.

The cause of DiGeorge syndrome has been identified as a submicroscopic deletion of chromosome 22 in the DiGeorge chromosomal region. It is classified along with velo-cardio-facial syndrome (Shprintzen syndrome) and conotruncal anomaly face syndrome as a 22q11 microdeletion and is sometimes referred to by the simple name 22q11 syndrome.

People with DiGeorge syndrome may have the following congenital heart lesions: tetralogy of Fallot, interrupted aortic arch type B, truncus arteriosus, aberrant left subclavian artery, right infundibular stenosis, or ventricular septal defect. 74% of patients with 22q11 syndrome have conotruncal malformations. 69% of patients are found to have palatal abnormalities including velopharyngeal incompetence (VPI), submucosal cleft palate, and cleft palate.

Some of the facial characteristics of DiGeorge syndrome are bifid uvula, high-arched palate, small mouth and wide set eyes, down-slanting eyes, hooded eyes, long face, malar flatness, cupped low set ears, bulbous nasal tip, and a dimpled or bifurcated nasal tip. Not all people with a 22q11 microdeletion display all, or indeed, any, of these characteristics.

Immune deficiency of varying severity, hypocalcemia (which may lead to seizures) and hypoparathyroidism are some of the most prominent features of DiGeorge, (although not of Shprintzen syndrome which is characterized more by cleft palate and speech difficulties). The thymus gland and parathyroid glands are malformed and dysfunctional or missing altogether in a classic DiGeorge syndrome case. Learning disorders and developmental delay effect 70% - 90% of individuals with DiGeorge syndrome.

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Treatment for DiGeorge syndrome (Velocardiofacial Syndrome)

Velocardiofacial Syndrome

Specific treatment for DiGeorge syndrome will be determined by your child's physician based on the following:

- your child's age, overall health, and medical history
- the extent of the disease
- the type of disease
- your child's tolerance for specific medications, procedures, or therapies
expectations for the course of the disease
- your opinion or preference

Treatment will also depend on the particular features in any given child and may include the following:

- Heart defects will be evaluated by a cardiologist.
- A plastic surgeon and a speech pathologist will evaluate cleft lip and/or palate.
- Speech and gastrointestinal specialists will evaluate feeding difficulties.
- Immunology evaluations should be performed in all children with this deletion. To monitor T-cell disorder and recurrent infections, live viral vaccines should be avoided and all blood products for transfusions (if needed) should be irradiated unless cleared by an immunology physician.

In severe cases where immune system function is absent, bone marrow transplantation is required.

Many newborns with this deletion will benefit from early intervention to help with muscle strength, mental stimulation, and speech problems. Basically, treatment is dependent upon the specific symptoms seen in any given child.

Velocardiofacial Syndrome

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How is DiGeorge syndrome diagnosed? (Velocardiofacial Syndrome)

Velocardiofacial Syndrome

In addition to a prenatal history, complete medical and family history, and a physical examination, diagnostic procedures for DiGeorge may include:

blood tests and tests to examine for immune system problems
x-ray - a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
echocardiography - a procedure that evaluates the structure and function of the heart by using sound waves recorded on an electronic sensor that produce a moving picture of the heart and heart valves.
fluorescent in situ hybridization (FISH) studies - when features of conotruncal heart defects, clefting, other facial features, hypocalcemia, and absent thymus are identified, a blood test is usually ordered to look for a deletion in the chromosome 22q11.2 region. FISH is specifically designed to look for small groups of genes that are deleted. If the FISH test finds no deletion in the 22q11.2 region and the features of VCFS are still strongly suggestive, then a full chromosome study is usually performed to look for other chromosome defects that have been associated with this syndrome.

If a 22q11.2 deletion is detected in a child, then both parents are offered the FISH test to see if this deletion is inherited. In approximately 10 percent of families, the deletion has been inherited from one of the parents. Any individual who has this 22q11.2 deletion has a 50 percent chance, with each pregnancy, of passing it on to a child.

Velocardiofacial Syndrome

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What are the features of DiGeorge syndrome? (Velocardiofacial Syndrome)

Velocardiofacial Syndrome

The following are the most common features of DiGeorge syndrome. However, not every child will have every feature of the syndrome and the severity of the features will vary between children. Features may include:

- palatal abnormalities (such as cleft lip and/or palate)
- feeding difficulties
- conotruncal heart defects (e.g., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings)
- hearing loss or abnormal ear exams
- genitourinary anomalies (absent or malformed kidney)
- hypocalcemia (low blood calcium levels)
- microcephaly (small head)
- mental retardation (usually borderline to mild)
- IQs are generally in the 70 to 90 range
- psychiatric disorders in adults (e.g., schizophrenia, bipolar disorder)
- severe immunologic dysfunction (an immune system which does not work properly due to abnormal T-cells, causing frequent infections)

Facial features of children with DiGeorge syndrome may include the following:

- small ears with squared upper ear
- hooded eyelids
- cleft lip and/or palate
- asymmetric crying facies
- small mouth, chin, and side areas of the nose tip

The symptoms of DiGeorge syndrome may resemble of problems or medical conditions. Always consult your child's physician for a diagnosis.

Velocardiofacial Syndrome

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What causes DiGeorge syndrome? (Velocardiofacial Syndrome)

Velocardiofacial Syndrome

As mentioned, 90 percent of patients with the features of this syndrome are missing a small part of their chromosome 22 at the q11 region. This region encompasses about 30 individual genes and results in developmental defects in specific structures throughout the body. It is not known why this region of chromosome 22 is often deleted, but this is one of the most frequent chromosome defects in newborns. Deletion 22q11.2 is estimated to occur in one in 3,000 to 4,000 live births. Most of the 22q11.2 deletion cases are new occurrences or sporadic (occurs by chance). However, in about 10 percent of families, the deletion is inherited and other family members are affected or at risk for passing this deletion to their children. The gene is autosomal dominant; therefore, any person who has this deletion has a 50 percent chance of passing the deletion to a child. For this reason, whenever a deletion is diagnosed, both parents are offered the opportunity to have their blood studied to look for this deletion.

Approximately 10 percent of individuals who have the features velo-cardio-facial syndrome (VCFS) do not have a deletion in the chromosome 22q11.2 region. Other chromosome defects have been associated with these features, as have maternal diabetes, fetal alcohol syndrome, and prenatal exposure to Accutane® (a medication for cystic acne).

Velocardiofacial Syndrome

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What is DiGeorge syndrome? (Velocardiofacial Syndrome)

Velocardiofacial Syndrome

DiGeorge syndrome is a genetic disorder with varying conditions present in each individual with the syndrome. However, conditions that are common to the syndrome include certain heart defects, effects on facial appearance, and lack of or underdeveloped thymus and parathyroid glands.

The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries:

In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following:
- hypoparathyroidism (underactive parathyroid gland), which results in hypocalcemia (low blood calcium levels)
- hypoplastic (underdeveloped) thymus or absent thymus, which results in problems in the immune system
- conotruncal heart defects (e.g., tetralogy of Fallot, interrupted aortic arch,
ventricular septal defects, vascular rings)
- cleft lip and/or palate

The name of DiGeorge syndrome was applied to this group of features.

Velocardiofacial Syndrome

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Program for Children with Velocardiofacial Syndrome

Velocardiofacial Syndrome

The Cleft Palate Clinic is partnering with University and Fairview Children’s Hospital experts to form one of the first specialized teams in the country to care for children with Velocardiofacial syndrome (VCFS) or DiGeorge syndrome.

Velocardiofacial syndrome is the most common syndrome associated with a cleft palate, with an estimated 1 in 2,000-4,000 children born with the syndrome. It is also the most common chromosomal condition next to Down syndrome and is associated with more than 180 signs and symptoms, such as cardiac defects, cleft palate, immune deficiency, psychosis, and dental abnormalities.

VCFS occurs when a small part of chromosome 22 is missing or deleted. Pediatric specialists in cardiology, genetics, rheumatology/immunology, psychiatry, plastic surgery, speech-language pathology, audiology, nursing and dentistry are part of the integrated team that provides children and families with access to specialized care in a single day appointment. This team approach also provides opportunities for translational research, with linkage between phenotypes and genotypes, as well as development of evidence-based practice guidelines.

Article source: http://www.dentistry.umn.edu

Velocardiofacial Syndrome

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Developmental Delay is Common in Children with Velocardiofacial Syndrome (Velocardiofacial Syndrome)

Velocardiofacial Syndrome

As a result of this type of learning disability, students will have relative strengths in reading and rote memorization but will struggle with math and abstract reasoning. These individuals may also have communication and social interaction problems such as autism. As adults, these individuals have an increased risk for developing mental illness such as depression, anxiety and schizophrenia (Greenberg).

Developmental delay is commonly found in children with Velocardiofacial Syndrome. Statistics show that the average age for walking is 15 to 16 months of age. The large majority of children tend to go through several spurts of motor development, especially between the ages of 3 and 4 years (The U.S. Census Bureau Population Estimates).

By school age, the majority of children will perform close to the normal range in terms of motor skills, although they may always be a bit more hypotonic.

Since it is common for children with the syndrome to have a cleft palate, which can cause difficulties with speech and swallowing, corrective surgery may be needed. Many children have speech and language difficulties, so speech therapy will be especially helpful. Physical therapy and occupational therapy may be helpful as most children tend to have low muscle tone.

Low calcium levels can be treated with a calcium supplement. However, if the problem continues, the child may need to be seen by an endocrinologist. For those with palatal problems, ear infections may be common, and the child may benefit from working with an ear, nose, and throat (ENT) specialist.

There is no cure for Velocardiofacial Syndrome, therefore, the treatment program involves managing the child’s symptoms. Symptoms of Velocardiofacial Syndrome vary from person to person and do not get progressively worse with age.

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Velocardiofacial Syndrome

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Velocardiofacial Syndrome For Babies

Velocardiofacial Syndrome

Some babies who have Velocardiofacial Syndrome have poor muscle tone. This makes it harder for them to learn to roll over, to sit up and to walk. Physical therapy can help with these problems.

There's a chance that your baby may have some kind of heart defect (about half of babies who have Velocardiofacial Syndrome also have a heart problem). An ultrasound exam of your baby's heart will show any defects. Surgery may be necessary to fix the heart problems associated with Velocardiofacial Syndrome.

Some babies who have Velocardiofacial Syndrome have problems swallowing, or they may have blockages in their stomach or intestines. Surgery may be necessary to fix these problems. Once they are fixed, they usually cause no further harm.

Some babies have eye problems, like cataracts (cloudy lenses) or crossed eyes. Corrective lenses or surgery may be necessary to fix these problems.

Children who have Velocardiofacial Syndrome may have colds, ear infections and sinus infections more often than other children. They are more likely to have thyroid problems, hearing loss, seizures and problems in their bones and joints. It's also common for these children to be late in teething.

Velocardiofacial Syndrome

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Facts of Velocardiofacial Syndrome

Velocardiofacial syndrome

Velocardiofacial syndrome, or VCFS, has had over 180 clinical features described. Though no individual with Velocardiofacial syndrome has all 180 findings, it is also true that no one with the syndrome has only one or two of the findings.

The problem in diagnosis of is many of the anomalies associated with the Velocardiofacial syndrome are not apparent at birth, or even in early childhood, primarily because they are behavioral, or in some cases because they are "silent" anomalies, meaning that they are not symptomatic. This disorder is seen in 1 in 700 births, but not everyone with Velocardiofacial syndrome has tetrology of fallot, and not every child with tetrology of fallot has Velocardiofacial syndrome.

Velocardiofacial syndrome

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Velocardiofacial Syndrome: How is Velocardiofacial Syndrome diagnosed?

Velocardiofacial Syndrome

Velocardiofacial Syndrome is suspected as a diagnosis based on clinical examination and the presence of the signs and symptoms of the syndrome.

A special blood test called FISH (fluorescence in situ hybridization) is then done to look for the deletion in chromosome 22q11.2. More than 95 percent of individuals who have Velocardiofacial Syndrome have a deletion in chromosome 22q11.2.

Those individuals who do not have the 22q11.2 deletion by standard FISH testing may have a smaller deletion that may only be found using more sophisticated lab studies such as comparative genomic hybridization, MLPA, additional FISH studies performed in a research laboratory or using specific gene studies to look for mutations in the genes known to be in this region. Again, these studies may only be available through a research lab.

Velocardiofacial Syndrome

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Signs and Symptoms of Velocardiofacial Syndrome

Velocardiofacial Syndrome

Children with Velocardiofacial Syndrome can have a range of characteristics, which will dictate what treatment is required. The cleft palate is usually repaired when the infant is around 10 months old or when he or she is starting to make sounds of speech. Palate surgery often takes about two or three hours, with the infant staying in the hospital one or two nights. Some children with Velocardiofacial Syndrome experience speech difficulties even when the palate looks normal. In addition, orthodontic treatment may be necessary.

If there is evidence of developmental delay, the child should be referred to an infant stimulation program to receive thorough developmental testing and appropriate interventions. In California, parents should contact their local Regional Center. Such programs are federally mandated and are available to all eligible children regardless of income.

Velocardiofacial Syndrome

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Velocardiofacial Syndrome in Intellectual Disability

Velocardiofacial Syndrome

Velocardiofacial syndrome (VCFS) is an autosomal dominant 22q11.2 microdeletion syndrome, the most common microdeletion syndrome in humans. Its phenotype includes learning difficulties, intellectual disability, congenital heart disease, abnormalities of the palate, hypocalcemia, immune deficiency and characteristic facial features. The behavioral phenotype includes intellectual abilities ranging from borderline intelligence to moderate intellectual disability, poor communication skills and a high frequency of psychiatric disorders with psychotic and affective symptoms developing in adolescence or early adulthood. The occurrence of borderline personality disorder with Velocardiofacial Syndrome as part of its behavioral phenotype is yet to be reported. A case report of a 34-year-old Caucasian woman with mild intellectual disability is described with a history of fleeting psychotic and affective symptoms with poor response to treatment. It was when her diagnosis of borderline personality disorder was confirmed that clozapine was commenced, with a remarkable improvement in her affective symptoms, instability of mood and fleeting psychotic symptoms. Self-injurious and other maladaptive behaviors abated and meaningful engagement with services became possible. The case highlights that borderline personality disorder needs to be recognize as part of the behavioral phenotype of Velocardiofacial Syndrome. The treatment implications include the need to consider treatment for resolution of cognitive-perceptual (psychosis like) symptoms, symptoms of affective instability, symptoms of behavioral dyscontrol, anxiety symptoms and self-injurious behavior. Further longitudinal research is needed to investigate the strength of the association between Velocardiofacial Syndrome and presence of borderline personality disorder symptoms and intellectual disability. Treatment options need to be explored with evidence based research of Velocardiofacial Syndrome for treatment of psychiatric disorders associated with the condition.

Velocardiofacial Syndrome

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Sex Differences in Cognitive Functioning in Velocardiofacial Syndrome (VCFS)

Velocardiofacial Syndrome

Sex differences in cognitive functioning were investigated in children with velocardiofacial syndrome (VCFS), a genetic defect caused by a microdeletion on chromosome 22q.11. The study population consisted of six groups: 50 boys with velocardiofacial syndrome (VCFS) (M = 11.1, SD = 2.7), 40 girls with velocardiofacial syndrome (VCFS) (M = 10.8, SD = 2.5), 13 male siblings of the participant with velocardiofacial syndrome (VCFS) (M = 12.3, SD = 1.9), 17 female siblings of the participant with velocardiofacial syndrome (VCFS) (M = 12.2, SD = 1.9), and a race- and gender-ratio-matched sample of 28 boy community control participants (M = 10.7, SD = 2.4) and 19 girl community control participants (M = 9.2, SD = 2.3). Each participant received a psychological assessment including intellectual and academic achievement as well as structural magnetic resonance imaging of his or her brain. Our results indicate that boys with velocardiofacial syndrome (VCFS) may be more cognitively affected than girls. In addition, and although cross-sectional in nature, our results document a negative association between age and cognitive functioning in girls with velocardiofacial syndrome (VCFS) but not in boys. Sex differences in frontal lobe volume are generally seen in the general population between boys and girls (boys > girls) and across all three samples, this trend emerged. Relative to boys with velocardiofacial syndrome (VCFS), girls with VCFS may be less cognitively affected, although age is negatively associated with cognitive functioning in girls with velocardiofacial syndrome (VCFS) but not boys, suggesting that girls with velocardiofacial syndrome (VCFS) may fail to maintain this cognitive advantage over boys.

Velocardiofacial Syndrome

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What causes velocardiofacial syndrome?

Velocardiofacial Syndrome

The cause of Velocardiofacial Syndrome is unknown. What is known is that it is a genetic disorder. This means that there is a problem with one or more of the genes which are found in every cell of the body that contain the instructions that tell cells what to do. Although the gene or genes that cause Velocardiofacial Syndrome have not been identified, most of the children who have been diagnosed with this syndrome are missing a small part of chromosome 22. Chromosomes are threadlike structures found in every cell of the body. Each chromosome contains hundreds of genes. A human cell normally contains 46 chromosomes (23 from each parent). The location or address of the missing segment in individuals with Velocardiofacial Syndrome is 22q11. As a result of this deletion, some of the genes are absent from this chromosome.

Scientists and physicians know that Velocardiofacial Syndrome is an autosomal dominant disorder. This means that only one parent needs to have the gene for Velocardiofacial Syndrome in order to pass it along to their children. When one of the parents has Velocardiofacial Syndrome the chance of their children having the syndrome is 1 in 2 or about 50/50 for each birth. Research has revealed, however, that Velocardiofacial Syndrome is inherited in only about 10 to 15 percent of the cases. In most instances, neither of the parents has the syndrome or carries the defective gene and the cause of the deletion is unknown.

Velocardiofacial Syndrome

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What is velocardiofacial syndrome?

Velocardiofacial syndrome

Velocardiofacial syndrome (VCFS) is a disorder that has been associated with over thirty different features. (A disease or disorder that has more than one identifying feature or symptom is a syndrome.) The name velocardiofacial syndrome comes from the Latin words "velum" meaning palate, "cardia" meaning heart and "facies" having to do with the face. Not all of these identifying features are found in each child who is born with VCFS. The most common features are cleft palate (opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems.

Although velocardiofacial syndrome is the most common syndrome associated with a cleft palate, it was not recognized until 1978, at which time Dr. Robert J. Shprintzen of the Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx, New York, described 12 children with the disorder. Most or all of these first 12 children were born with a cleft palate, heart defects and similar faces. Velocardiofacial syndrome may also be known as Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome.

Velocardiofacial syndrome

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