Velo craniofacial syndrome

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Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. What is velocardiofacial syndrome? Velocardiofacial syndrome VCFS is a genetic condition that is sometimes hereditary. VCFS is characterized by a combination of medical problems that vary from child to child. These medical problems include: cleft palate, or an opening in the roof of the mouth, and other differences in the palate; heart defects; problems fighting infection; low calcium levels; differences in the way the kidneys are formed or work; a characteristic facial appearance; learning problems; and speech and feeding problems.
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DiGeorge Syndrome (deletion 22q11.2; Velo-Cardio-Facial Syndrome; thymic hypoplasia; CATCH 22)

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Robert J. Shprintzen, Ph.D. | Sacred Heart University Connecticut

Approximately 1 in 2,, children are born with VCFS. Characteristics include: a long face with a prominent upper jaw flattening of the cheeks a bluish color below the eyes a prominent nose with narrow nasal passages a long thin upper lip and a down-slanting mouth cleft palate or submucous cleft palate Why did this happen? Velocardiofacial Syndrome is an autosomal dominant condition. Genetic studies of children with this condition show that a microscopic segment on the long arm of chromosome 22 is missing. The genetic test for diagnosis of this condition is called "FISH analysis" and can be performed in many medical centers.
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The velo-cardio-facial (Shprintzen) syndrome

Providers What are Effects of Velocardiofacial Syndrome? The DNA in people is stored in 46 packages of groups of genes, and each of these packages is known as a chromosome. The description of 22q The syndrome affects about one in 4, children, and most children affected by this condition do not have it passed from either parent.
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Print Overview DiGeorge syndrome, more accurately known by a broader term — 22q This deletion results in the poor development of several body systems. The term 22q

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