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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.
Symptoms of the following disorders can be similar to those of Cayler Syndrome. Comparisons may be useful for a differential diagnosis:
Asymmetric Crying Facies is a fairly common congenital disorder characterized by partial paralysis of one side of the face when the affected child cries or smiles. It is caused by the absence (agenesis) or the incomplete development (hypoplasia) of a muscle of the lower lip. The condition is present at birth (congenital) and may be diagnosed upon seeing the child crying or smiling. It is thought to be inherited as an autosomal dominant genetic trait. Children with this disorder do not have the heart defects associated with Cayler Syndrome.
Congenital Facial Palsy is a rare disorder characterized by the complete or partial paralysis of facial muscles and weakness of facial nerves at birth (congenital). It usually affects both sides of the face (bilateral), but cases have been reported in which only one side of the face was affected (unilateral). On rare occasions, Congenital Facial Palsy has been associated with middle ear disorders. The disorder is inherited as an autosomal dominant genetic trait.
Moebius Syndrome is a rare developmental disorder characterized by facial paralysis at birth (congenital), due to impairment of the 6th (abducens) and/or 7th (facialis) cranial nerves. Moebius Syndrome is identifiable at birth by a masklike expression that is most apparent during crying or laughing. The mouth and eyes may remain open during sleep due to facial nerve and/or muscle abnormalities. Feeding may be difficult during infancy, and speech problems may occur later in development. Other features associated with Moebius Syndrome may include a short, incompletely developed tongue (hypoglossia), fingers and/or toes that are webbed (syndactyly) and/or abnormally short (brachydactyly), a malformed foot (clubfoot or talipes), and/or mild stiffness of both lower legs (spastic diplegia). Mental retardation occurs in some cases. It is believed that Moebius Syndrome may have a number of different causes. (For more information on this disorder, choose "Moebius" as your search term in the Rare Disease Database.)
The following disorders may be associated with Cayler Syndrome as secondary characteristics. They are not necessary for a differential diagnosis:
Ventricular Septal Defects are a group of heart abnormalities that are present at birth (congenital). The normal heart has four chambers. The two lower chambers are known as ventricles and are separated from each other by the ventricular septum. Affected individuals have an abnormal opening in the septum. Infants with moderate ventricular septal defects may experience the symptoms of congestive heart failure, such as excessive fatigue and difficulty breathing during feeding or periods of activity. Some infants may experience poor feeding; cold, grayish arms and legs; and/or rapid, shallow breathing. Ventricular septal defects of moderate size are also characterized by abnormal enlargement of the heart (cardiomegaly) and heart murmurs. The exact cause of ventricular septal defects is not fully understood. (For more information on this disorder, choose "Ventricular Septal Defects" as your search term in the Rare Disease Database.)
Atrial septal defects are a group of rare heart defects that are present at birth (congenital). The normal heart has four chambers with two upper chambers known as atria. They are separated from each other by a fibrous partition known as the atrial septum. Affected individuals have an abnormal opening in this partition. Most children with atrial septal defects have no symptoms. A few affected individuals may be abnormally thin and experience mild growth delays as well as an increased susceptibility to respiratory infections. Other severely affected children, especially those with Ostium Primum Defects (the least common form of this disorder), may experience breathlessness, easy fatigability during activity, and/or irregular heartbeats (arrhythmias). In most cases, atrial septal defects occur for no apparent reason (sporadic). Other cases are thought to be inherited as autosomal recessive or dominant genetic traits. (For more information on this disorder, choose "Atrial Septal Defects" as your search term in the Rare Disease Database.)
Tetralogy of Fallot is a rare 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. Tetralogy of Fallot consists of a combination of four different heart defects: a ventricular septal defect; obstructed outflow of blood from the right ventricle to the lungs (pulmonary stenosis); a displaced aorta, which causes blood to flow into the aorta from both the right and left ventricles; and the abnormal enlargement of the right ventricle. If infants with Tetralogy of Fallot are not treated, the symptoms usually become more severe. Blood flow to the lungs may further decrease and severe cyanosis may cause life-threatening complications. The exact cause of Tetralogy of Fallot is not known. (For more information on this disorder, choose "Tetralogy of Fallot" as your search term in the Rare Disease Database.)
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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McDonald-McGinn DM, et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: case a wide FISHing net! Genet Med. 2001;3:23-29.
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Caksen H, et al. A case of the cardiofacial syndrome (Cayler's syndrome). Acta Pediatr Jpn. 1996;38:256-59.
D'Addio AP, et al. A case of the cardiofacial syndrome (Cayler's syndrome). Minerva Pediatr. 1993;45:189-92.
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Perrin P, et al. Cayler's cardio-facial syndrome. Apropos of 19 cases. Arch Fr Pediatr. 1989;46:257-61.
Espejode de Echaniz L, et al. Asymmetric crying facies syndrome. An Esp Pediatr. 1987;27:199-204.
Silengo MC, et al. Asymmetrical crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity. Clin Genet. 1986;30:481-84.
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FROM THE INTERNET
McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 125520; Last Update:6/5/01.
Report last updated: 2008/04/11 00:00:00 GMT+0