Velocardiofacial syndrome (VCFS) is a genetic disorder that is caused by a deletion or other genetic change on chromosome 22. It is also known as 22q11.2 deletion syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome. VCFS is one of the more complex genetic disorders affecting many different body systems, including the immune system, heart, face, and brain. It can cause a wide range of physical and intellectual disabilities, including problems with learning and development, hearing loss, and abnormalities of the face and head.
VCFS syndrome is a rare disorder, with an estimated prevalence of 1 in 4,000 to 1 in 6,000 live births. Individuals with VCFS need timely and appropriate medical care to manage the condition and maximize their quality of life.
The Symptoms of Velocardiofacial Syndrome
The symptoms of this disease vary considerably, despite the fact that they all involve the same region of chromosome 22. At least 30 symptoms have been linked to the 22q11 deletion syndrome. The majority of people with VCFS may experience some of the following signs and symptoms, but unlikely all of them:
- Cleft palate, most commonly of the soft palate (the roof of the mouth nearest the throat)
- Heart problems
- Facial similarities, such as the elongated face, wide nose, almond-shaped eyes, small ears
- Ocular issues
- Feeding difficulties, such as food that goes through the nose because of the palatal discrepancies
- Middle ear infections
- Low calcium levels due to hypoparathyroidism
- Immune system issues that make it a challenge for the body to fight off infection
- Kidney formation and function abnormalities
- Poor muscle strength
- Back/neck/spine bone abnormalities
These characteristics are present in children from the moment they are born.
Learning disabilities and developmental delays are common among children with VCFS syndrome. Patients with the 22q11.2 deletion are around 65% more likely to have a non-verbal learning impairment. The difference between their verbal and performance IQs is higher than 10 points. This set of test results reduces the individual’s full-scale IQ scores but needs to give a better picture of their talents.
Students with this learning disability tend to excel in areas like reading and memorizing but struggle in others like mathematics and abstract thinking. Autism spectrum disorders and other speech and social interaction difficulties are also possible. Anxiety, depression, and schizophrenia are just some mental illnesses more likely to manifest in these patients as they reach adulthood.
The Diagnosis of Velocardiofacial Syndrome
The physical exam and the symptoms and signs associated with the disease may lead the doctor to suspect VCFS as the correct diagnosis.
To detect the loss in chromosome 22q11.2, a specific blood test known as FISH (fluorescence in situ hybridization) is performed. A deletion at 22q11.2 is present in about 95% of people with VCFS.
If a person does not have the 22q11.2 deletion on routine FISH testing, they may have a minor deletion that can only be detected through more advanced lab studies. However, this type of research may be solely accessible in a laboratory setting.
Is 22q11.2 Deletion Syndrome Inherited?
A 22q11.2 deletion causes VCFS. In 93% of cases, the deletion is spontaneous, occurring only in the affected child, making the parents’ likelihood of having another baby with VCFS extremely low. However, once a person has the deletion, there is a 50% probability that their offspring will also have it. The 22q11 deletion is a random occurrence that can happen during the formation of sperm/egg or in early fetal development.
The loss in chromosome 22 that causes VCFS is inherited in fewer than 10% of cases. When VCFS runs in families, other family members are at risk of having the condition as well.
Parents with children with a 22q11.2 deletion should be tested because some people with this deletion have minor symptoms. In addition, the loss may be present in some but not all body cells, meaning that some individuals with the deletion may not experience any symptoms at all. Some individuals have the deletion within their blood cells but not their sperm/egg cells. The term for this is mosaicism.
To understand more about their risk of having another child with VCFS syndrome, all parents of children with a 22q11.2 deletion should get genetic counseling before and throughout their second pregnancy.
VCFS Treatment Options
Treatment options for the velocardiofacial syndrome (VCFS) are typically multidisciplinary and involve a team of healthcare professionals, including doctors, nurses, geneticists, and other specialists. The specific treatment plan will depend on the individual’s particular symptoms and needs.
Medical management of VCFS often focuses on addressing specific medical issues that may be present, such as heart defects, immune system problems, or developmental delays. For example, individuals with heart defects may need surgery to repair or correct the problem. In contrast, those with immune system problems may need to take medications to help boost their immune function.
Any kid diagnosed with VCFS may require one or more of the following surgical procedures, depending on the existence of specific symptoms and the severity of those symptoms:
- Correction of congenital heart problems
- Reconstruction of the cleft palate
- Reconstruction or repair of the patient’s lower jaw
- Surgical procedures to reconstruct the ears
Developmental delays and intellectual disabilities may be addressed through early intervention and special education services. These may include speech and language, occupational, and physical therapy to help individuals with VCFS improve their communication, socialization, and independence skills.
Psychological support may also be an essential part of treatment for VCFS. Many individuals with VCFS and their families may benefit from counseling and support to help them cope with the challenges of the condition.
In addition to medical and therapeutic interventions, individuals with VCFS may also benefit from adaptive equipment and assistive technology to help them communicate, learn, and participate in daily activities.
It is vital for individuals with VCFS to have regular medical check-ups and to follow their treatment plan closely to manage the condition effectively and maximize their quality of life. Individuals with VCFS can lead fulfilling and meaningful lives with appropriate treatment and support.
To Conclude
In conclusion, velocardiofacial syndrome (VCFS) is a genetic disorder that affects multiple systems in the body and can cause a wide range of physical and developmental problems.
While there is no cure for VCFS, early diagnosis and treatment can help to improve outcomes and manage symptoms. Treatment may include specialized care from a multidisciplinary team, including medical, dental, and speech therapy, as well as educational and behavioral interventions.
It is vital for individuals with VCFS and their families to receive support and education about the condition to help manage the challenges they may face. Despite the challenges, many individuals with VCFS go on to lead fulfilling and successful lives with the proper support and resources.
That said, you can always count on experts from the Pediatric Endocrine and Metabolic Center of Florida, so don’t hesitate to schedule an appointment as soon as possible.