What does velocardiofacial syndrome look like?
VCFS includes many common features: cleft palate, heart defects and a characteristic facial appearance. Other common findings include minor learning problems and speech and feeding problems. Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
Are DiGeorge and velocardiofacial syndrome the same?
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.
Is velocardiofacial syndrome fatal?
In older adults over the age of 60, the thymus is mostly replaced by fat. Children with complete DiGeorge syndrome are born without a thymus and are therefore profoundly deficient in T cells and extremely susceptible to infections. Without treatment, the disorder is usually fatal by two or three years of age.
What is the main cause of DiGeorge syndrome?
DiGeorge syndrome is caused by a problem called 22q11 deletion. This is where a small piece of genetic material is missing from a person’s DNA. In about 9 in 10 cases (90%), the bit of DNA was missing from the egg or sperm that led to the pregnancy. This can happen by chance when sperm and eggs are made.
Can Velocardiofacial syndrome be cured?
Although there is no cure for DiGeorge syndrome (22q11. 2 deletion syndrome), treatments can usually correct critical problems, such as a heart defect or cleft palate.
Can Velocardiofacial syndrome be inherited?
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.
Are there other names for velocardiofacial syndrome?
Other names used to refer to VCFS are DiGeorge Syndrome, 22q11.2 deletion syndrome, autosomal dominant Opitz G/BBB syndrome, Cayler Cardiofacial syndrome, Conotruncal Anomaly Face syndrome (CTAF), Shprintzen syndrome, Sedlackova syndrome, thymic hypoplasia or congenital thymic aplasia.
What are the genetic features of velocardiofacial syndrome?
Velocardiofacial syndrome (VCFS; from the Latin velum – palate, cardia – heart, and facies – to do with the face) is a genetic disorder involving chromosome 22 (a deletion at 22q11). Its features include c ardiac defects, a bnormal facies, thymic hypoplasia, c left palate and h ypocalcaemia – hence it is termed ‘CATCH 22’).
Is there a cure for velocardiofacial syndrome?
Treatment of Velocardiofacial Syndrome. There is no known cure for VCFS or the 22q11.2 deletion syndrome. Individual features are managed on a case to case basis by attending physicians using some standard treatments available.
How is VCFs diagnosed based on presenting symptoms?
VCFS is suspected in an individual based on presenting symptoms. Diagnosis is made utilizing a submicroscopic deletion of chromosome 22 which are detected through the following: Multiplex ligation-dependent probe amplification (MLPA) where various probes are used to identify microdeletions for selected regions of 22q11.2