Cayler Syndrome

Cayler Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Cayler Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Hypoplasia of the Depressor Anguli Oris Muscle with Cardiac Defects
  • Asymmetric Crying Facies with Cardiac Defects
  • ACF with Cardiac Defects
  • Cayler Cardiofacial Syndrome

Disorder Subdivisions

  • None

General Discussion

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.

Symptoms

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.

Causes

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.

Affected Populations

Cayler Syndrome is an extremely rare disorder that affects males and females in equal numbers. The number of people affected is not known.

Standard Therapies

Diagnosis

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.



Treatment

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.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Buyce ML, ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990:283, 1355-56.



Magalini SI, et al., eds. Dictionary of Medical Syndromes. 3rd ed.New York, NY: J.B. Lippincott Company; 1990: 168.



JOURNAL ARTICLES

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.



Rauch A, et al. Monozygotic twins concordant for Cayler syndrome. Am J Med Genet. 1998;75:113-17.



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.



Sanklecha M, et al. Asymmetric crying facies: the cardiofacial syndrome. J Postgrad Med. 1992;38:147-8, 150.



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.

Singhi S, et al. Congenital asymmetrical crying facies. Clin Pediatr. 1980;19:673-5, 678.



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.

Resources

American Heart Association

7272 Greenville Avenue

Dallas, TX 75231

Tel: (214)784-7212

Fax: (214)784-1307

Tel: (800)242-8721

Email: Review.personal.info@heart.org

Internet: http://www.heart.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



International 22q11.2 Deletion Syndrome Foundation, Inc.

P.O. Box 424

Matawan, NJ 07747

Tel: (877)739-1849

Email: info@22q.org

Internet: http://www.22q.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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