Velocardiofacial Syndrome

Velocardiofacial Syndrome (VCFS), also known as 22q11.2 deletion syndrome, is a complex genetic disorder that affects multiple systems within the body. Despite being one of the most common genetic syndromes, it is often underdiagnosed due to its wide range of symptoms and the variability in how these symptoms manifest.

Causes of Velocardiofacial Syndrome

VCFS is primarily caused by a deletion of a small segment of chromosome 22, specifically at the q11.2 location. This genetic mutation is usually a de novo event, meaning it occurs spontaneously during the formation of reproductive cells or early fetal development. However, in some cases, the mutation can be inherited from a parent who carries the deletion.

Genetic Mutation and Its Implications

The deletion at the 22q11.2 region involves approximately 30 to 40 genes, although the exact number can vary. This genetic loss disrupts normal cellular function, leading to the diverse range of symptoms associated with VCFS. Notably, the T-box 1 (TBX1) gene, which plays a crucial role in the development of the heart, thymus, and parathyroid glands, is often implicated in this syndrome.

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Symptoms of Velocardiofacial Syndrome

The symptoms of VCFS can vary widely among affected individuals, making diagnosis challenging. Common symptoms include:

Cardiac Anomalies: Heart defects are a hallmark of VCFS, with approximately 75% of individuals presenting with some form of congenital heart defect. These can range from minor issues to severe conditions requiring surgical intervention.

Facial Dysmorphology: Distinctive facial features such as a long face, hooded eyelids, a prominent nose, and small ears are often observed.

Palatal Abnormalities: Problems with the palate, such as velopharyngeal insufficiency, can lead to speech difficulties and feeding issues.

Immune Deficiency: Due to thymic hypoplasia, individuals may experience recurrent infections.

Developmental Delays and Learning Disabilities: Cognitive impairments and developmental delays are common, often requiring educational support.

Psychiatric Disorders: There is an increased risk for psychiatric conditions, including anxiety, depression, and schizophrenia.

Diagnosis of Velocardiofacial Syndrome

The diagnosis of VCFS typically involves a combination of clinical evaluation and genetic testing. Given the syndrome's complexity, a multidisciplinary approach is often necessary.

Clinical Evaluation

Healthcare providers assess the presence of key symptoms, such as heart defects, facial features, and developmental delays. A thorough family history is also crucial to identify any genetic predispositions.

Genetic Testing

Fluorescence in situ hybridization (FISH) and chromosomal microarray analysis (CMA) are the primary genetic tests used to detect the 22q11.2 deletion. These tests confirm the diagnosis by identifying the specific genetic mutation responsible for the syndrome.

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Heart Defects Associated with Velocardiofacial Syndrome

Heart defects are among the most significant medical concerns for individuals with VCFS. Some of the common cardiac anomalies include:

Tetralogy of Fallot: A combination of four heart defects that affect normal blood flow.

Ventricular Septal Defect (VSD): A hole in the wall separating the two lower chambers of the heart.

Interrupted Aortic Arch: A rare defect where the aorta is not completely developed.

The severity of these defects can vary, necessitating individualized treatment plans that may include medication, surgical repair, or ongoing cardiac monitoring.

Treatment and Management of Velocardiofacial Syndrome

Management of VCFS is multifaceted, requiring a comprehensive approach tailored to the individual's symptoms and needs.

Medical Interventions

Cardiac Care: Regular monitoring and treatment of heart defects are critical. Surgical interventions may be necessary for severe cases.

Speech Therapy: Addressing palatal abnormalities and speech difficulties through targeted therapy can improve communication skills.

Immune System Support: Management of immune deficiencies through vaccinations and preventive care is important to reduce the risk of infections.

Educational and Psychological Support

Educational interventions are essential for addressing learning disabilities. Individualized education plans (IEPs) and special education services can provide the necessary support for academic success. Additionally, psychological counseling and psychiatric care may be required to manage mental health challenges.

Family and Social Support

Support for families is crucial, as they play a significant role in the ongoing care and management of individuals with VCFS. Connecting with support groups and resources can provide valuable information and emotional support.

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Frequently Asked Questions

1. What are the symptoms of velocardiofacial syndrome?

Symptoms of velocardiofacial syndrome can include cardiac defects, palatal abnormalities, distinctive facial features, and developmental delays, often presenting in infancy with variability in symptoms.

2. What causes velocardiofacial syndrome?

Velocardiofacial syndrome is caused by a deletion of genetic material on chromosome 22, leading to a spectrum of congenital abnormalities affecting multiple organ systems.

3. How is velocardiofacial syndrome diagnosed?

Diagnosis typically involves clinical evaluation of symptoms, imaging studies to assess cardiac defects, and genetic testing to identify chromosomal abnormalities associated with the syndrome.

4. What are the treatment options for velocardiofacial syndrome?

Treatment focuses on managing associated health issues, including cardiac surgery, speech therapy for palatal abnormalities, and supportive care for developmental challenges.