Скачать или смотреть WHAT IS VELOCARDIOFACIAL SYNDROME (VCFS)? Symptoms of Velocardiofacial syndrome - VCFS FISH

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What is Velocardiofacial Syndrome (VCFS)? 22q11.2 deletion syndrome

Velocardiofacial syndrome (VCFS)

Velocardiofacial syndrome also called the 22q11.2 deletion syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome.

This is a genetic condition characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart.

More than 180 different clinical features are associated with velocardiofacial syndrome, with no single anomaly present in every patient.

These clinical features include:

Cleft palate, or an opening in the roof of the mouth, and other differences in the palate;
Heart defects
Low calcium levels (hypoparathyroidism)
Characteristic facial appearance
Differences in the way the kidneys are formed or work
Learning problems
Speech and feeding problems

Frequency of occurrence

The syndrome has a population prevalence of approximately 1:2,000 in the U.S. although the incidence is higher.

How is VCFS diagnosed?

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 VCFS have a deletion in chromosome 22q11.2.

Management

With over 180 phenotypes associated with VCFS, clinical management is obviously complex.
Success rates are good and seem to be worse in VCFS only when pulmonary stenosis/atresia are present.

Prognosis

The prognosis for the resolution of heart, speech, and immune problems in VCFS is good.
The large majority of babies with VCFS have successful corrections of their heart disease and will live normal life spans.
Immune problems subside with time, and endocrine problems tend to be intermittent and treatable with appropriate medications.

How common is a velocardiofacial syndrome?

What causes Velocardiofacial syndrome?

This syndrome is different than DiGeorge syndrome but most symptoms and genetics are similar.

Velocardiofacial syndrome, or 22q11 deletion syndrome, is known by many names, including Shprintzen syndrome, craniofacial syndrome, DiGeorge syndrome, or conotruncal anomaly face syndrome.

The name velocardiofacial syndrome comes from the Latin words “velum” meaning palate, “cardia” meaning heart, and “facies,” having to do with the face.

VCFS includes many common features: cleft palate, heart defects and a characteristic facial appearance. Other common findings include minor learning problems and speech and feeding problems.

Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. It is estimated that one in 2,000 to 5,000 children per year are born with velocardiofacial syndrome, and more than 130,000 individuals in the United States have this syndrome.

Since the initial description of this syndrome, many other parts of the body have been reported to be involved. Many of the affected body systems are:

Immune system (helps to fight off infections)
Endocrine system (the series of glands that secrete important hormones for normal growth and development)
Neurological system (brain control centers for learning, speech and hearing, and moods)
The Velocardiofacial Syndrome Education Foundation Center for the Diagnosis, Treatment and Study of VCF Syndrome currently lists 185 reported findings in patients with velocardiofacial syndrome. This comprehensive list serves as a guide for evaluating each individual to determine which areas may be affected.

Research shows that children with velocardiofacial syndrome are born with these features and that they do not progress over time. It is important to realize none of these occurs 100 percent of the time. Knowing which body systems are affected will help your doctors provide you and your child with the most complete therapeutic interventions.

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