Velocardiofacial Syndrome (VCFS)

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Demographics
6 Diagnosis
7 Treatment and Management
8 Prognosis
9 Resources
10 References

[edit] Name of Condition

Velocardiofacial Syndrome (VCFS), also known as Shprintzen syndrome, DiGeorge syndrome, Craniofacial syndrome or Conotruncal Anomaly Unusual Face Syndrome.

[edit] Definition

VCFS is a genetic condition that causes many different physical changes all over the body. It results in the formation of distinct facial features and can lead to heart, bone, and immune system disorders, among other complications. The symptoms of VCFS do not tend to worsen over time, and people with this condition can live well into adulthood with proper care.

[edit] Description, Signs and Symptoms

Symptoms of VCFS may include any of the following:

cleft palate gemscool
heart problems
elongated face, almond-shaped eyes, a wide nose, and small ears
learning difficulties
poor eyesight
feeding problems including nasal regurgitation due to the cleft palate
middle-ear infections]
hypoparathyroidism (low levels of parathyroid hormone, can result in seizures)
low resistance to infection due to weak immune system
short height
weak muscles gemscool
scoliosis
tapered fingers
low calcium levels

Of these, cleft palate is the most common and telling symptom, occurring in about 70% of cases. Learning problems are also typical, occuring in about 90% of cases, and heart defects and recurring infections are also indicative of VCFS, occurring in about 70-75% of cases.

[edit] Inheritance

VCFS can be inherited, in about 10-15% of cases, but in about 85-90% of cases, it is the result of a spontaneous mutation. The mutation that causes VCFS is, in 95% of cases, a deletion of part of the 22nd chromosome. It is a significantly large deletion. The genes COMT and TBX1 have been identified to cause VCFS, but there are more genes that affect the disease which have yet to be identified.

[edit] Demographics

VCFS affects approximately 1 in 4000 newborns. This estimate may be low, however, because not every person who has the mutation displays significant symptoms, and may never be diagnosed.

[edit] Diagnosis

VCFS can be diagnosed based on a physical exam and the presence of standard symptoms. A blood test called FISH (Fluorescence in situ hybridization) can be done to visualize the chromosomes and check to see if the deletion is present that would cause VCFS. If the deletion is not seen, a more detailed genetic test can be done because there are other mutations on the same chromosome that could cause VCFS, but they are very rare and require more sophisticated lab techniques to find.

[edit] Treatment and Management

Physical problems are treated by dealing with the symptoms. Heart defects are treated surgically, and cleft palates can often be corrected surgically as well. Children with low calcium or PTH levels can take supplements.

Counseling such as physical therapy and speech therapy should begin early in life to assess developmental problems and hopefully manage learning delays.

[edit] Prognosis

Depending on the severity of the case, prognosis is good. Some people may never have any visible symptoms, but even those individuals who have significant symptoms can treat them and survive well into adulthood.