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Velocardiofacial syndrome

LC control no.sh2005005439
Topical headingVelocardiofacial syndrome
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Variant(s)Conotruncal anomaly face syndrome
Conotruncal anomaly unusual face syndrome
Craniofacial syndrome
Shprintzen syndrome
VCFS (Velocardiofacial syndrome)
Velo-cardio-facial syndrome
See alsoFace--Abnormalities
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Genetic disorders
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Head--Abnormalities
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Syndromes
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Found inWork cat.: Murphy, K.C. Velo-cardio-facial syndrome, 2005: p. xi (The term velo-cardio-facial syndrome (VCFS) was coined almost 30 years ago. Molecular analysis subsequently revealed that VCFS is associated with deletions encompassing genes mapping to chromosome 22q11)
National institute on deafness and other communication disorders, via WWW, Aug. 18, 2005 (Velocardiofacial syndrome: Although VCFS is the most common syndrome associated with a cleft palate, it was not recognized until 1978. VCFS may also be known as Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome. The cause of VCFS is unknown. What is known is that it is a genetic disorder)
Velo-Cardio-Facial Syndrome Educational Foundation, via WWW, Aug. 18, 2004 (VCFS, also known as the Shprintzen Syndrome, DiGeorge Sequence and Catch 22 is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion), and is one of the most common genetic disorders in humans)
WebMD web site, Sept. 19, 2005 (Velocardiofacial syndrome: synonyms: Shprintzen syndrome, Conotruncal anomaly face syndrome, Craniofacial syndromes)