What do people with Velocardiofacial Syndrome look like?
A number of particular facial features may be present in some people with 22q11. 2 deletion syndrome. These may include small, low-set ears, short width of eye openings (palpebral fissures), hooded eyes, a relatively long face, an enlarged nose tip (bulbous), or a short or flattened groove in the upper lip.
How is Velocardiofacial syndrome diagnosed?
How is VCFS diagnosed? VCFS is suspected as a diagnosis based on clinical examination and the presence of the signs and symptoms of the syndrome. A special blood test called FISH (fluorescence in situ hybridization) is then done to look for the deletion in chromosome 22q11.
How does Velocardiofacial syndrome occur?
While the exact cause of velocardiofacial syndrome remains unknown, investigators have identified an associated chromosomal defect in people with velocardiofacial syndrome. Most children identified as having velocardiofacial syndrome are missing a small piece of chromosome 22.
How is the family of a person with Velocardiofacial syndrome affected?
Children with VCFS who have immunodeficiency are more susceptible to infections such as otitis media and recurrent bronchitis (Sullivan, 2005), placing the child at risk for hearing loss as well as poorer overall health.
Is Velocardiofacial syndrome the same as DiGeorge?
Chromosome 22q11. 2 deletion (CH22qD) syndrome is also known as DiGeorge syndrome or velocardiofacial syndrome. This deletion syndrome is extremely common with nearly one in 4000 children being affected. Recent advances and a holistic approach to patients have improved the care and well-being of these patients.
What is velocardiofacial syndrome?
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. 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.
Is there a gender-moderated effect of functional COMT polymorphism in velo-cardio-facial syndrome?
A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome) American Journal of Medical Genetics, Part B Neuropsychiatric Genetics. 2006a;141B(3):274–280.
What is the pathophysiology of von Willebrand syndrome (VCFS)?
It is believed that the pathology of VCFS is caused by haploinsufficiency (insufficient amount of the gene product due to the presence of only one allele instead of two) of one or more genes contained in the chromosomal region of 22q11.2.
What is sedlačková syndrome?
Sedlačková E. The syndrome of the congenitally shortening of the soft palate. Cas Lek Ces. 1955;94(12):1304–1307. [Google Scholar]