U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Velocardiofacial syndrome

Velocardiofacial syndrome

Synonyms
Shprintzen VCF syndrome; Shprintzen syndrome; VCF SYNDROME; VCF syndome

Summary

Excerpted from the GeneReview: 22q11.2 Deletion Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Donna M McDonald-McGinn
Heather S Hain
Beverly S Emanuel
view full author information

Available tests

92 tests are in the database for this condition.

Clinical tests (92 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DGS-C, IDD, LAN, SEZ-12, DGCR2
    Summary: DiGeorge syndrome critical region gene 2

  • Also known as: , DGCR6
    Summary: DiGeorge syndrome critical region gene 6

  • Also known as: C22orf12, DGCRK6, Gy1, pasha, DGCR8
    Summary: DGCR8 microprocessor complex subunit

  • Also known as: DGCR13, DGCR14, DGS-H, DGS-I, DGSH, DGSI, ES2, ESS-2, Es2el, bis1, ESS2
    Summary: ess-2 splicing factor homolog

  • Also known as: CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS, TBX1
    Summary: T-box transcription factor 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.