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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.

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 2269
Cinnaminson, NJ 08077
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 (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  4/11/2008
Copyright  1996, 2003 National Organization for Rare Disorders, Inc.

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