Velocardiofacial Syndrome - General Discussion

SYMPTOMS & TREATMENTS

Chromosome 22q11.2 deletion syndrome is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcemia) and other endocrine abnormalities such as thyroid problems and growth hormone deficieny, gastrointestinal problems, feeding difficulties, kidney abnormalities, hearing loss, seizures, skeletal abnormalities, minor facial differences, and learning and behavioral differences. The symptoms of this condition are extremely variable, even among members of the same family.

Chromosome 22q11.2 deletion syndrome is a disorder caused by a small piece of chromosome 22 missing. A number of separately described diagnoses including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), autosomal dominant OpitzG/BBB syndrome and Cayler Cardiofacial syndrome were all originally thought to be separate disorders before the chromosome 22q11. 2 deletion was identified in individuals affected with all of these conditions.

This is an abstract of a report from the National Organization for Rare Disorders, Inc. (NORD). 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

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: 4/28/2010
Copyright 1991, 1993, 1996, 1997, 1998, 2004, 2010National Organization for Rare Disorders, Inc.

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