Velocardiofacial syndrome

From Health Encyclopedia

Contents 1 See for 2 Broader Terms 3 Related Terms 4 Scope Note 5 Facts (generated by robot; please edit if you find it inaccurate)

See for

VCFS

Broader Terms

chromosome disorder, syndrome

Related Terms

autosomal dominant trait, congenital heart disorder, congenital oral /facial /cranial defect

Scope Note

caused by microdeletion on chromosome 22q11.2; associated with multiple congenital anomalies, learning disabilities, behavioral phenotypes including ADHD and anxiety, with schizophrenic risk in adulthood.

Facts (generated by robot; please edit if you find it inaccurate)

• The heart defect most often associated with velocardiofacial syndrome is an abnormal opening in the fibrous partition (septum) that separates the heart's two lower chambers (ventricular septal defect).
• 2 deletion syndrome? Velocardiofacial syndrome is a genetic disorder linked with more than 30 different identifying features.
• In studying some families with velocardiofacial syndrome, scientists have determined that velocardiofacial syndrome is an autosomal dominant disorder.
• eduOBJECTIVE: Velocardiofacial syndrome is a common genetic condition often accompanied by mild cognitive impairment.
• Velocardiofacial syndrome is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties.

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