Velocardiofacial Syndrome: Symptoms, Causes, Treatment

What are the symptoms of velocardiofacial syndrome?

Velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome, can present with a wide range of symptoms. Common symptoms include:

Cleft palate or other palate abnormalities, leading to speech issues
Heart defects, such as tetralogy of Fallot or other congenital heart problems
Distinct facial features, including a long face, almond-shaped eyes, and a small chin
Learning difficulties or developmental delays, especially in speech and motor skills
Behavioral issues like ADHD, autism spectrum disorders, or anxiety
Immune system problems, leading to frequent infections
Feeding difficulties in infancy due to poor muscle tone or palate problems
Hearing loss or chronic ear infections
Low calcium levels, which can lead to seizures or muscle cramps
Kidney problems or abnormalities
Psychiatric disorders, such as an increased risk of developing schizophrenia or depression in later life

The severity and combination of symptoms can vary greatly between individuals with velocardiofacial syndrome. Early diagnosis and management can help address many of these challenges.

What are the causes of velocardiofacial syndrome?

Velocardiofacial syndrome (VCFS), or 22q11.2 deletion syndrome, is caused by a small deletion of genetic material on chromosome 22. Specifically, a portion of the long arm of chromosome 22 is missing, which includes several important genes. This genetic deletion disrupts the development of various parts of the body, leading to the wide range of symptoms associated with VCFS.

Causes of the genetic deletion:

Spontaneous (de novo) mutation: In most cases, the 22q11.2 deletion occurs as a random genetic event during conception. This is called a “de novo” mutation, meaning neither parent carries the deletion.
Inherited: In some cases, the syndrome is inherited from a parent who has the same deletion on chromosome 22. If a parent carries the deletion, there is a 50% chance they will pass it on to their child.

While VCFS is caused by the deletion of specific genes on chromosome 22, the exact reasons why this deletion happens are not fully understood. The deletion impacts the development of the heart, immune system, face, and other structures, resulting in the characteristic symptoms of the syndrome.

What is the treatment for velocardiofacial syndrome?

Treatment for velocardiofacial syndrome (VCFS), or 22q11.2 deletion syndrome, is tailored to address the specific symptoms and medical issues present in each individual. Since the condition affects multiple body systems, a multidisciplinary approach is often necessary. Below are common treatments and interventions based on the associated symptoms:

1. Heart Defects

Surgery: Many individuals with VCFS have congenital heart defects, such as tetralogy of Fallot, that may require corrective surgery.
Cardiologist care: Regular monitoring by a cardiologist is essential for ongoing management.

2. Cleft Palate and Speech Problems

Surgery: If a cleft palate or other palate abnormalities are present, surgical correction may be necessary to improve feeding, speech, and hearing.
Speech therapy: Children often need speech therapy to address speech delays or issues resulting from palate abnormalities.

3. Immune System Issues

Immunological care: For individuals with immune deficiencies, antibiotics may be prescribed to prevent infections. In severe cases, immune-boosting treatments may be needed.
Vaccinations: Extra care may be taken with vaccinations, and specific vaccines may be recommended to prevent infections.

4. Calcium and Endocrine Problems

Calcium supplementation: Low calcium levels (hypocalcemia) may be managed with calcium and vitamin D supplements to prevent complications such as seizures or muscle cramps.
Endocrine management: If there are thyroid or other endocrine issues, regular monitoring and treatment by an endocrinologist are important.

5. Developmental and Learning Delays

Early intervention: Developmental delays may be addressed through early intervention services, such as occupational therapy, physical therapy, and educational support.
Special education: Many children with VCFS benefit from individualized education programs (IEPs) that offer specialized learning support.
Speech therapy: Speech and language therapy is often necessary for children with speech delays.

6. Psychiatric and Behavioral Support

Psychological counseling: Individuals with VCFS may experience mental health challenges, including anxiety, ADHD, and depression. Therapy and counseling can be beneficial.
Medication: In some cases, psychiatric medications may be prescribed to manage behavioral or mental health conditions.
Specialized education or therapy for autism spectrum or ADHD: Behavioral interventions may be necessary for attention and behavioral issues.

7. Hearing and Ear Issues

Hearing aids or ear tubes: If hearing loss or frequent ear infections are present, hearing aids or ear tube surgery may be necessary.
ENT specialist care: Regular follow-ups with an ear, nose, and throat (ENT) specialist may be needed.

8. Feeding Issues in Infancy

Feeding therapy: Infants with VCFS may have difficulty feeding due to cleft palate or muscle tone issues. Feeding therapy and special feeding techniques can help.

9. Orthodontic Care

Braces: Some children with VCFS may require orthodontic treatment for dental issues.

10. Regular Monitoring

Ongoing care from a multidisciplinary team, including cardiologists, ENT specialists, immunologists, endocrinologists, and speech therapists, is crucial for long-term health management.

Though there is no cure for VCFS, early diagnosis and comprehensive treatment can help manage the symptoms and improve the quality of life for individuals with the syndrome.