Also known as DiGeorge syndrome and, more precisely, chromosome 22q11.2 deletion syndrome, velocardiofacial syndrome (VCFS) is a genetic disorder that can potentially be inherited. Not everything about this defect is well understood; however, our experienced craniofacial plastic surgeon can often help patients affected by this condition. He utilizes the most advanced techniques and technology available to address the signs and symptoms associated with VCFS. Each person’s expression of this defect is unique, and our practice’s approach will be tailored to optimize the outcome for you or your child. We understand that this experience is emotional and we strive to provide as much support, information, and assistance as possible at each stage of treatment.
For additional information about velocardiofacial syndrome and treatment options, please contact our skilled and compassionate medical team to set up a consultation.
What is velocardiofacial syndrome?
Velocardiofacial syndrome is a genetic disorder that occurs when part of chromosome 22 is missing. The lack of this genetic information has an effect on pharyngeal arch development, which occurs in the earliest stages of fetal growth. The pharyngeal arches, of which there are six, begin to form in the fourth week of embryonic development. These arches contribute to the formation of bone, cartilage, muscles, and nerves in the lower face and neck, including the ears, upper and lower jaw, soft palate, tonsils, thymus, and larynx. Patients born with VCFS may see signs of the disorder at birth; however, recognizable characteristics may take a few years to develop or may never become particularly visible. Each individual’s expression of the disorder can vary in type and severity of defect.
The name velocardiofacial syndrome indicates the various anatomical systems that can be affected by the disorder. Velo refers to the palate, cardio to the heart, and facial to the face. As a result, cleft palate, heart defects, problems with the immune system, and facial deformation are common concerns. Additionally, patients with VCFS often have similar identifiable facial characteristics, although these typically vary based on ethnic and racial background.
How does this condition occur?
Both the mother and the father pass on a copy of chromosome 22, so every person receives two copies of this genetic material. Velocardiofacial syndrome happens when part of one copy of chromosome 22 is missing (called 22q11.2). It’s not entirely understood how the information goes missing in the first place, and in the majority of cases it’s a spontaneous event that is not connected to any behavior on the part of the parents.
Can it be passed on through the family?
While most cases of velocardiofacial syndrome are spontaneous, about 10 percent are due to a genetic inheritance from one of the parents. Individuals who have VCFS have a 50 percent chance of passing it on to their children. Therefore, we recommend individuals with this defect seek genetic counseling before beginning or expanding their family. Expression of VCFS can be mild enough that a person does not realize they have the condition, yet they can still pass it on (with variance in the severity of signs entirely possible). Testing is available to determine if you may have VCFS (called FISH analysis) and it can be very helpful in determining the likelihood of having another child with this disorder. If it was a spontaneous event, the chances of having another baby with VCFS is close to zero. The incidence of velocardiofacial syndrome is about 1 in 2,000 to 1 in 5,000 children in the population.
What are the signs and symptoms of velocardiofacial syndrome?
There are over 30 different signs and symptoms that are associated with velocardiofacial syndrome, although one person’s expression of the disorder can be quite different from another’s. Some of the most common effects include cleft palate and other facial abnormalities, learning and speech difficulties, and heart defects. Signs of VCFS include:
- Cleft lip and/or palate
- Heart defects (bluish skin color can occur if a heart condition limits blood flow)
- Breathing problems
- Elongated face with underdeveloped chin
- Almond-shaped and wide-set eyes
- Wide nose
- Small ears positioned low on the head
- Immune system problems (difficulty fighting infections)
- Kidney malformation and/or functional issues
- Learning and speech problems and/or delays
- Feeding problems caused by palatal abnormalities
- Ear infections
- Muscle twitching around the mouth, hands, arms, or throat
- Low calcium (due to hypoparathyroidism)
Patients who have VCFS often experience higher rates of depression, mental illness, and schizophrenia. The former two are likely caused by the difficulties inherent to dealing with a disorder of this type. It’s just as essential to ensure children and adults with VCFS are given the emotional support they need to overcome hardship as it is to address the physical complications. We can provide some options to help you find a mental health professional should you request it.
What are the treatment options?
Since velocardiofacial syndrome can involve a wide range of signs of symptoms, treatment will naturally depend on the type and severity of effects seen in the patient. When the disorder becomes recognizable will also affect what procedures will be used and at what stage they should be performed. Newborns with VCFS may require a number of surgical procedures to address facial deformities, and Dr. Eric Payne, our extensively trained craniofacial plastic surgeon, will discuss all your options with you during your initial consultation. Our practice works with a team of physicians from a wide range of medical specialties. This collaboration is designed to give you the best care possible and achieve optimal results.
Some of the most common signs of velocardiofacial syndrome are palatal and facial deformities. Palatal problems, particularly if there are difficulties feeding, can be addressed with a single or two-stage palate repair, depending on the needs of the patient. Soft palate repair can begin when the child is between three and six months of age. If a second stage is performed, this procedure commonly occurs at 18-24 months of age. Whether jaw surgery, rhinoplasty, or reconstructive ear surgery will be necessary depends on the severity of the concern, which will also dictate the age at which an operation should be performed. Since many children with VCFS have a compromised immune system, infections should be treated aggressively with antibiotics, particularly in infancy and childhood. Dr. Payne can provide detailed information about what the ideal approach for your child’s needs are during your initial meeting. You are also welcome to contact our team with your questions at any time during treatment.
What is recovery going to be like?
Just as the treatment will differ based on the anatomic characteristics of the patient, so too will recovery be unique to the individual. Everyone heals at a different rate, and it’s important to remember immunity problems can sometimes play a role in how quickly someone heals after surgery. Surgical procedures on children often require a short stay in the pediatric ICU (intensive care unit) as well as additional time in the hospital. At-home care is always an important part of any treatment plan, and Dr. Payne will provide post-operative instructions, which may include a liquid and/or soft food diet, particularly in cases of cleft palate repair and jaw advancement surgery. Newborns can benefit from using a bottle with a special type of nipple (such as the Haberman bottle, the Pigeon nipple or the Dr. Brown’s feeding system) that allows them to feed more easily if they have palatal problems that reduce their ability to suckle. Dr. Payne can provide additional information if this applies to you. The care, comfort, and results of each patient are the highest priorities for our medical team, and we will make every effort to ensure that the process goes as smoothly as possible. We know that this is often a stressful and emotional experience for both the child and the parents, and we hope to help minimize the strain as much as possible.
We understand you may have many questions, and we’re here to help. Contact us today for more information or to schedule a consultation.