Velo-Cardio-Facial Syndrome (Shprintzen Syndrome)

Velo-Cardio-Facial syndrome (VCFS) is a genetic disorder that has been associated with over thirty different features, including cleft palate, heart defects, characteristic facial appearance, minor learning problems, and speech and feeding problems. It is caused by a deletion of a small segment of chromosome 22. It is also called Shprintzen syndrome, DiGeorge syndrome, craniofacial syndrome, conotruncal anomaly unusual face syndrome,
22q11, and catch 22.
22q and You Newsletter
This quarterly publication of The Children’s Hospital of Philadelphia also provides information about the history and medical needs of children with 22q.11 deletions.
22q11 Deletion Syndrome
This GeneClinics page provides clinical information relating genetic testing to the diagnosis, management, and genetic counseling of individuals and families.
Velo-Cardio-Facial Syndrome
Though not recently updated, this website by the parents of a child with VCFS includes a useful selection of articles and abstracts, support groups, personal contacts, and more.
Velo-Cardio-Facial Syndrome (VCSF) Educational Foundation
The website of “an international not-for-profit, self-help organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners.” Includes a fact sheet, newsletters, list of support groups, references, and more.
Related Subjects
CHARGE Syndrome
Chromosome Disorders
Facial Differences
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