Cayler Cardiofacial Syndrome :: Nationwide Children's Hospital

Cayler Cardiofacial Syndrome

Cayler syndrome, also known as "asymmetric crying facies with cardiac defects," is a rare disorder. It features congenital heart defects and the underdevelopment or absence of one of the muscles that controls the movements of the lower lip. The disorder is present at birth.  It is usually first noticed when the infant cries or smiles. Half of the lower lip cannot be drawn down and outward because of the incomplete development or absence of the muscle in the lower lip.

Asymmetric crying facies can occur as an isolated event caused by the incomplete or absent muscle in the lip.  It is easily seen when a newborn cries as his lower lip is pulled downward to one side and does not move on the other side. However, Cayler reported the association of this trait with congenital heart disease and called it cardiofacial syndrome, subsequently called Cayler Cardiofacial syndrome. Cayler Cardiofacial syndrome was first linked to 22q deletion syndrome in 1994.

Children diagnosed with Cayler Cardiofacial syndrome 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 this syndrome.

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 22q11 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 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 this deletion.

22q deletion syndrome was known by several names, including Cayler Cardiofacial, DiGeorge, Conotruncal Anomaly Face, 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. Many physicians and researchers today use the term 22q deletion syndrome because it describes the chromosome problem underlying the medical problems.

Congenital heart defects associated with Cayler syndrome may include ventricular septal defects, atrial septal defects, and/or tetralogy of Fallot. In some rare cases, individuals may have an abnormally small head, unusually small jawbones, small eyes, and/or mental retardation.

It is now recommended that newborns diagnosed with Asymmetric Crying Facies at birth receive testing for 22q deletion syndrome.

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. 

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