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A 39-year-old member asked:

What exactly is velocardiofacial syndrome?

1 doctor answer2 doctors weighed in
Dr. Johanna Fricke
Pediatrics - Developmental and Behavioral 51 years experience
Genetic Disorder: A microdeletion of chromosome 22q11.2, usually a new mutation; 6-10% chance it came from a parent by autosomal dominant (50% chance) transmission. Most have intellectual disability, small head, motor & language delay; many also have autism & adhd. Unusual facial features.Risk of congenital anomalies of heart, palate, kidneys & immune system. Teens & adults may develop other psychiatric disorders.
Dr. James Sidman
Pediatric ENT and Head and Neck Surgery 41 years experience
Speech issues are common also. There is a huge variability in how this problem shows up in different children from severely involved, to very mild.
Mar 7, 2013
Dr. Johanna Fricke
Pediatrics - Developmental and Behavioral 51 years experience
Provided original answer
Good point. . IQ is usually ~ 20 points < than parents' , so language-based learning disability & ADHD with avg. IQ may be the only signs.
Mar 8, 2013

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Last updated May 17, 2013

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