Cayler syndrome, also known as "asymmetric crying facies with cardiac defects," is an extremely rare disorder characterized by congenital heart defects and the underdevelopment or absence of one of the muscles that control the movements of the lower lip. The disorder is present at birth (congenital) and 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 (hypoplasia) or absence (agenesis) of the depressor anguli oris muscle.
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 (microcephaly), unusually small jawbones (micrognathia), small eyes (microphthalmos), and/or mental retardation. Most cases of Cayler syndrome are thought to be inherited as an autosomal dominant trait.
In Cayler Syndrome, one of the muscles (depressor anguli oris) that control the movement of lower lip is not fully developed (hypoplasia) or is absent (agenesis). When an affected child cries or smiles the muscle does not move appropriately because half of the lower lip cannot be drawn down and outward. Along with this muscle abnormality, infants with Cayler Syndrome experience cardiac defects.
Congenital heart defects associated with Cayler Syndrome may include ventricular septal defects, atrial septal defects, and/or Tetralogy of Fallot. Ventricular septal defects and atrial septal defects are a group of heart abnormalities that are present at birth (congenital). Tetralogy of Fallot is a form of cyanotic congenital heart disease. Cyanosis is the abnormal bluish discoloration of the skin that occurs because of low levels of circulating oxygen in the blood. The symptoms associated with these heart defects may include rapid, shallow breathing; cold, grayish arms; easy fatigability; irregular heartbeats; and/or mild growth delays. (For more information on “Ventricular Septal Defects,” “Atrial Septal Defects” and/or “Tetralogy of Fallot” see the Related Disorders section of this report.)
In some rare cases, individuals with Cayler Syndrome may exhibit abnormalities of the head and face (craniofacial) including an abnormally small head (microcephaly), unusually small jaws (micrognathia), and/or small eyes (microphthalmos). Cayler Syndrome may also be associated with abnormalities of the arms/legs, kidneys, spine, and/or respiratory system. Mental retardation may also occur.
Most cases of Cayler Syndrome are thought to be inherited as an autosomal dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.
In dominant disorders a single copy of the disease gene (received from either the mother or father) will be expressed “dominating” the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is fifty percent for each pregnancy regardless of the sex of the resulting child. The risk is the same for each pregnancy.
Some reports in the medical literature suggest that the cause of Cayler Syndrome may be multifactorial. Multifactorial inheritance means a disease may occur as a result of many genetic and environmental factors.
Cayler Syndrome is an extremely rare disorder that affects males and females in equal numbers. The number of people affected is not known.
The identification of possible Cayler syndrome is suspected upon observing the infant while crying or smiling. An infant with the underdeveloped or absent muscle of the lower lip (depressor anguli oris) should receive a thorough examination for the associated heart defects and skeletal abnormalities. The examination may include a spinal x-ray and complete evaluations of the kidneys, cardiovascular and respiratory systems.
Surgery may be performed to treat the congenital heart defects associated with Cayler syndrome. The surgical procedure performed will depend upon the severity and location of the heart defects and their associated symptoms. Infants who have skeletal, respiratory, and/or other malformations may also be treated with surgery, medications, and/or other prescribed treatments.
A supportive team approach for children with Cayler syndrome will be of benefit, including physical therapy and other medical, social, and vocational services. Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.
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