Children diagnosed with Conotruncal Anomaly Face syndrome (CTAF) have the underlying condition called 22q11.2 deletion syndrome. They are missing a small part of the chromosome 22. This deletion is the cause of the medical problems found in children with CTAF.
Genetic material, made up of genes and chromosomes, is like a blueprint for the development of body systems. A genetic disorder is a disease whose symptoms are caused by a problem in the body’s genetic material. When there is an error in the genetic material, health and development problems in the affected body system can happen.
Most of the time 22q deletion happens by chance. However, in about 10 percent of families, the deletion is inherited and other family members are affected or at risk for passing this same deletion to their children. For this reason, whenever a deletion is diagnosed, both parents are offered the opportunity to have their blood studied to look for the same deletion.
22q deletion syndrome was known by several names, including Conotruncal Anomaly Face, DiGeorge, Shprintzen, and Velocardiofacial syndromes, before the discovery of the deletion on chromosome 22. In other words, these syndromes share the same cause, but because several different researchers in different areas of expertise described it, the syndrome had multiple names. CTAF was first described and named in 1976. Many physicians and researchers today use the term 22q deletion syndrome because it describes the chromosome problem underlying the medical problems.
The conotruncal anomaly face syndrome is characterized by an unusual facial appearance associated with congenital heart disease (CHD). The word conotruncal refers to the portion of heart that includes the aorta and pulmonary artery, which is most frequently affected in the types of heart defects found in CTAF.
Medical problems that are common in the syndrome include certain heart defects, effects on facial appearance, and cleft palate. Not every child will have every feature of the syndrome and the medical problems children have will vary widely in severity. Children with CTAF may have medical problems such as:
Facial features of children with this syndrome may include the following:
Some signs and symptoms of CTAF may be noticed at birth, but others may not appear until later in infancy or early childhood. The new 22q Center at Nationwide Children’s Hospital, along with the Cleft Lip and Palate Center, provides families and their children access to a multidisciplinary team of professionals. Although there is no cure for 22q deletion syndrome, many therapies, medical and surgical treatments are available to address its associated symptoms. The earlier these symptoms are detected, the sooner treatment can be started.