Velocardiofacial Syndrome VCFS 22Q Deletion

Velocardiofacial Syndrome (VCFS) (22Q Deletion) is a syndrome that includes as part of its phenotypic (observable characteristics) spectrum:

• DiGeorge sequence
• Pierre Robin sequence
• Disorders associated with CHARGE syndrome – Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth, Genital and/or urinary abnormalities, and Ear abnormalities and deafness.

Velocardiofacial Syndrome

Velocardiofacial syndrome is a relatively more common genetic disorder, affecting an estimated 1 in every 2,000-5,000 babies born. Broken down, the name Velocardiofacial syndrome comes from the Latin roots ‘velum’ meaning palate, ‘cardia’ meaning heart, and ‘facies’ meaning related to the face.

What is Velocardiofacial Syndrome?

Velocardiofacial syndrome, also commonly referred to as VCFS, is the most recurrent syndrome specifically related to cleft palate, and the second most recurrent syndrome associated with congenital heart disease. VCFS is a genetic disorder that is occasionally hereditary but most often occurs as a spontaneous deletion of a particular gene sequence. The syndrome is marked by a combination of medical issues that vary substantially from child to child. The tell-tale characteristics of Velocardiofacial syndrome include, but are not limited to:

• Elongated face with conspicuous upper jaw
• Underdeveloped lower jaw
• Flattened cheeks
• Bluish color under eyes
• Almond shaped eyes
• Wide nose with attenuated nasal passages
• Extended thin upper lip and downward slanting mouth
• Cleft palate (opening in roof of the mouth) or submucous cleft palate
• Other palate and throat problems
• Heart defects

What Causes Velocardiofacial Syndrome?

Velocardiofacial syndrome is a condition that is either inherited or occurs spontaneously as an autosomal dominant genetic mutation. Specifically, in children with VCFS, a segment of the long arm of chromosome 22 is absent. VCFS does not occur because of anything the mother did or did not do during pregnancy. In fact, the particular reasoning for this genetic deletion is not completely understood and seems to occur, as mentioned, most often as a new mutation in the child (93%), with neither parent having the deletion.

Velocardiofacial Syndrome and Genetics

Although not all of the genes associated with VCFS have been identified, there are two known genes linked to the syndrome: COMT and TBX1. Most children born with Velocardiofacial syndrome have a small part of chromosome 22 missing. The exact location of this deleted segment is 22q11.2, which is why VCFS is also known as 22q11.2 deletion syndrome. This deletion, for whatever reason, happens as an accident when either the sperm or egg is being formed or very early on during gestation.

If neither parent has Velocardiofacial syndrome and produces a child with VCFS, the chances of having another child with the deletion are extremely low and no higher than any other unaffected person’s chances in the population. If one parent does have Velocardiofacial syndrome, the chance of the deletion being inherited by the child is 50% every pregnancy. In less than 10% of cases, however, the child inherits VCFS from a parent. Because the symptoms are so variant and some people with Velocardiofacial syndrome are so minimally affected, it is recommended that all parents with a child affected have genetic testing performed.

Problems Associated with Velocardiofacial Syndrome

Other than the physical facial characteristics most often associated with Velocardiofacial syndrome, a number of other health problems also typically exist with affected children and are usually seen as actual symptoms of VCFS. There is a great variation from child to child regarding what other associated health problems they experience as, although VCFS is due to a very specific segment of chromosome 22, at least 30 different symptoms have been linked to the 22q11.2 deletion. Possible health problems/symptoms associated with Velocardiofacial syndrome include:

• Weak immune system
• Low calcium levels due to hypoparathyroidism
• Hearing impairments
• Vision problems
• Speech problems
• Feeding problems due to nasal regurgitation
• Learning differences/developmental delays
• Renal (kidney) irregularities
• Decreased muscle tone
• Short height
• Tapered fingers
• Scoliosis (curvature of spine)
• Leg pain
• Behavioral extremes

Most children with VCFS will not experience all of these health issues, but rather a select group of these symptoms. Every case, as mentioned, is unique, and symptoms of Velocardiofacial syndrome differ greatly depending on the affected child.

Treatment for Velocardiofacial Syndrome

Treatment for VCFS is based on the particular existing symptoms. Treatment may include medications, therapies, and surgical procedures to enhance the health of the patient and provide a more aesthetically normal facial appearance. Regardless, for most children with Velocardiofacial syndrome, the best outcomes occur when a team of medical specialists is put together to comprehensively work to increase the child’s health and create the most advantageous treatment plan.

Depending on a child’s particular needs and the severity of his or her VCFS, some or all of the following procedures may be necessary as part of a treatment plan for the syndrome:

• Surgical repair of cleft palate
• Surgical repair of lower jaw
• Surgical reconstruction of the ear
• Different procedural repairs of other facial features

Other Names for Velocardiofacial Syndrome

Velocardiofacial syndrome is also referred to as:

• VCFS
• 22q11.2 syndrome
• DiGeorge syndrome
• Conotrucal Anomaly Face syndrome (CTAF)
• Autosomal Dominant Opitz G/BBB syndrome
• Cayler Cardiofacial syndrome

Please contact the Craniofacial Team of Texas if you would like to schedule an appointment.

If you would like more information about this craniofacial anomaly, please contact the Craniofacial Team of Texas by calling 512-377-1142 or toll free 877-612-7069 to schedule an appointment or complete an online appointment request.