22Q-Velocardiofacial Syndrome | Symptoms, Protocols and Diagnostic Testing

Symptoms and Protocols

Symptoms of 22Q-Velocardiofacial Syndrome and Overview of Our Care Protocols  

22Q-velocardiofacial syndrome is an extremely variable condition.  No child is born with every sign or symptom, nor will any child go on to develop all of them. There is, however, a core set of complications that are important to be aware of because of the impact they can have on your child’s health.  

These issues should be screened for in all children who have 22Q-VCFS.

Approximately 75 percent of people with 22Q-velocardiofacial syndrome will have a heart defect. This can range from minor (right-sided aortic arch) to major (tetralogy of Fallot) and can include vascular ringsinterrupted aortic arch, ventricular septal defect and persistent truncus arteriosus.

Recommendation

  • Have an echocardiogram and electrocardiogram at least once following diagnosis. If it is completely normal, no other follow-up is usually needed. If any abnormality is found, consultation with a cardiologist is usually recommended.

The thymus gland plays an important role in our immune system. In less than one in 200 newborns with 22Q-velocardiofacial syndrome, it is completely absent (thymic aplasia) and a bone marrow transplant is often required.  It is much more common for the thymus to be present but underdeveloped (thymic hypoplasia). This results in an immune system that is not as strong as it should be, and not as effective at fighting infections. Allergies and autoimmune disorders (such as idiopathic arthritis) are also more common. If your child has partial immunodeficiency, you may receive special counseling about immunizations for your child.

Recommendation

  • Lab tests in newborn period to assess basic immune system
  • Lab tests age 9-12 months to evaluate immune functioning prior to giving live virus vaccines (MMR, polio, chicken pox)
  • More tests later in life if there are frequent infections or symptoms of autoimmune disorders

The thyroid gland and parathyroid glands are located in front of the neck, below the larynx (voice box). The thyroid plays an important role in the body's growth and development, as well as metabolism. Both the thyroid and parathyroid glands also play a role in controlling the level of calcium in the body.

Calcium

Calcium controls the contractions of muscles, the firing of the nerves, and many other vital body functions. Low calcium levels (hypocalcemia) may cause tremors, muscle spasms, seizures, vomiting, and abnormal heart rhythms. When the parathyroid gland is underdeveloped, it is called hypoparathyroidism.  

Recommendation

  • Yearly lab tests to monitor calcium levels
  • Testing before and after operations or serious illness
  • More testing if other symptoms appear

Growth

Somewhere between 30 percent and 60 percent of children with 22Q-velocardiofacial syndrome will have short stature, although only about 10 percent will end up short as adults. Growth rate will generally be normal but children with 22Q-VCFS are often shorter than other children the same age. Most will catch up to average height. Children and adults with 22Q-VCFS also have an increased risk for abnormal thyroid function, which can affect height, weight and general well-being. 

Recommendation

  • Yearly lab tests to monitor thyroid function
  • Maintain a growth chart
  • More testing if other symptoms appear

Ears & Nose

Children with 22Q-velocardiofacial syndrome can have a combination of a poor swallow, narrow ear canals, and immune problems that leave them prone to chronic otitis media (fluid in the ears) and chronic ear infections. They are at a higher than average risk for conductive and sensorineural hearing loss. They are also more likely to suffer from sinusitis.

Recommendation

  • Regular hearing tests
  • ENT evaluation by a professional familiar with the diagnosis
  • Management of excessive ear wax
  • Management of chronic sinus congestion
  • Observe / evaluate in clinic  

Throat

Both the structure and function of the trachea and esophagus can be abnormal. Examples: laryngomalacia, laryngeal web, laryngeal atresia and subglottic stenosis. These problems are not as common as other symptoms of 22Q-VCFS, but when they do occur, they affect breathing, feeding and speech, and can be severe enough to require a tracheostomy.

Recommendation

  • Referral to specialty clinics as needed for optimal outcome

Feeding and speech issues are common and complex in children and adults with 22Q-velocardiofacial syndrome. Identifying and targeting the underlying issues can be difficult as there are often multiple causes in the same child, including both structural differences and neurological issues.

Feeding

There are significant feeding and swallowing problems (dysphagia) that can result in coughing, choking, needing to “swallow twice” to get food down, food coming out the nose, and intolerance of certain textures. The swallowing issues can be severe enough to require a gastrostomy (G-tube). It is also common to hear reports that children and adolescents are extremely picky eaters. They may experience gastroesophageal reflux disorder (GERD). Constipation is a common problem even in the absence of other gastrointestinal abnormalities. 

Recommendation

  • Observe / evaluate in clinic
  • Refer for nutrition / speech / feeding evaluations as needed depending on the nature and severity of symptoms 

Speech

One study showed as many as 96 percent of individuals with 22Q-VCFS had delayed language acquisition.  This included absent or limited babbling as infants, first words after age 2, and first phrases after age 3. Some children have apraxia of speech and will require specialized treatment. Communication (not just speech) is the primary goal.

Recommendation

  • Observe / evaluate in clinic
  • Refer for formal speech and language evaluations and therapy as needed. Usually this begins with early intervention programs followed by a combination of private and school-based speech therapy.
  • We recommend the use of sign language with children who have delayed speech, or speech that others cannot understand.

Pharyngeal Valve / Palate Issues

About 70 percent of individuals with 22Q-VCFS will have palatal abnormalities. These include cleft palate, submucosal cleft palate, bifid uvula and velopharyngeal insufficiency. The pharyngeal valve is located at the back of the throat.  It is used for both swallowing and speech.  When it does not function as it should, the result is called velopharyngeal dysfunction or velopharyngeal insufficiency (VPI). 

Recommendation

  • Children suspected of having VPI are referred to the VPI Clinic for multidisciplinary evaluation to determine the best treatment options

Individuals with 22Q-velocardiofacial syndrome have a higher incidence of renal problems such as hypoplastic / aplastic kidney, or cystic kidneys.

Recommendation

  • A renal ultrasound at least once following diagnosis. If it is completely normal, no other follow-up is usually needed. If anything unusual is found, consultation with a nephrologist is recommended.

Nearly all children and adults with 22Q-velocardiofacial syndrome will have some degree of developmental delay, behavioral issues, and learning difficulties. Psychiatric issues are also common, including anxiety, depression, and an increased risk for schizophrenia. The identification and management of these symptoms is a key component of the 22Q-Velocardiofacial Syndrome Center. 

Recommendation

More than 180 signs and symptoms have been reported in children and adults with 22Q-velocardiofacial syndrome.  Some are common, some are rare. No one has all 180, nor will they go on to develop them.

Recommendation

  • Attend 22Q-VCFS Clinic – Let our experts worry about everything that can happen so you can simply focus on what does happen.

Genetic Testing for 22Q-VCFS

Dr. Saal is dedicated to helping young adults with 22Q and other VCFS disabilities.The symptoms of 22Q-velocardiofacial syndrome vary a lot from person to person, and some of them are very subtle. This can make it difficult to recognize and diagnose the syndrome. However, there are some clear reasons to consider testing, particularly when more than one symptom is present, and the symptoms are associated with developmental delay or learning difficulty.  

  • Typical facial features: Long narrow face with flat cheek bones, small chin, hooded eyelids, shorter openings between the upper and lower eyelids, small mouth, and small ears with an unusual folding of the top half of the ear, and a nose that can be long with a wide nasal bridge, and a squared or sometimes bulbous tip. Note: Unusual facial features are not always present, and are generally more noticeable in Caucasians than in other ethnic groups. 
  • Heart defects (conotruncal): Tetralogy of Fallot, interrupted aortic arch, ventricular septal defect (perimembranous), persistent truncus arteriosus
  • Oral motor feeding problems in infancy; feeding difficulties that are related to the muscles of the mouth and/or mouth movements 
  • Speech issues: Apraxia, velopharyngeal insufficiency (VPI), significant speech and language delays, laryngeal web 
  • T-cell immunodeficiency 

Diagnostic Testing

A diagnosis of 22Q-velocardiofacial syndrome can be confirmed by ordering a blood test, usually fluorescent in situ hybridization probe for microdeletion 22q11.2 (FISH 22q11.2). 

Children and adults can also be referred to the Division of Human Genetics for more comprehensive diagnostic services.

Contact us.

Email: 22Q-VCFS@cchmc.org

Phone: 513-803-1884