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A 39-year-old member asked:

what exactly is velocardiofacial syndrome?

1 doctor answer2 doctors weighed in
Dr. Johanna Fricke
Developmental and Behavioral Pediatrics 50 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 40 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
Developmental and Behavioral Pediatrics 50 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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