Is Velocardiofacial syndrome fatal?
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.
Can you live a normal life with DiGeorge syndrome?
DiGeorge syndrome is a severe genetic disorder that is noticeable at birth. At the very worst, it can result in heart defects, learning difficulties, a cleft palate and potentially many other problems. However, not everyone is severely affected and most people with the condition will live normal life spans.
What does someone with VCFS 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.
Is Vcfs a disability?
Children who have VCFS also often have learning difficulties and developmental delays. About 65 percent of individuals with the 22q11. 2 deletion are found to have a non-verbal learning disability. When tested, their verbal IQ scores are greater than 10 points higher than their performance IQ scores.
How long do kids with 22q live?
DiGeorge syndrome (22q11 deletion) is a rare primary immunodeficiency disease in children that causes low levels of a special type of white blood cell called a T cell that fights infections. In about 1-2% of cases, some children have a life expectancy of two or three years.
What’s the life span of someone with velocardiofacial syndrome?
Life expectancy of Velocardiofacial Syndrome There is no sufficient data yet to determine the specific life span among patients with VCFS although some studies generalize those individuals who live until their early adult years without serious health concerns can live a normal life span.
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. Clinical management is dependent on a patient’s age together with acute medical problems such as:
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.
Can a person with VCFS live a normal life?
Clinical management is dependent on a patient’s age together with acute medical problems such as: There is no sufficient data yet to determine the specific life span among patients with VCFS although some studies generalize those individuals who live until their early adult years without serious health concerns can live a normal life span.