Velocardiofacial Syndrome
Velocardiofacial Syndrome Causes
The syndrome is often said to be caused by the genetic deletion found on the long arm of the chromosome 22. This syndrome causes the defect occurring of the neural-chest derive tissues which certainly affects the development of the third and the fourth Branchial pouches or the pharyngeal pouches.
Velocardiofacial Syndrome Definition
Velocardiofacial Syndrome, otherwise known as the 22q11.2 deletion syndrome, DiGeorge Syndrome Strong Syndrome, is a disease or a condition that is characterized by the deletion of a chromosome that occurs near the middle of the chromosome at a location named or designated as q11.2 It usually one of the causes which causes hypemasality, language delays and speech sound errors (D'Antonio LL, Scherer NJ, Miller LL, Kalbfleisch JH, Bartley JA (2001). "Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS". Cleft Palate Craniofac. J. 38 (5): 455-67).
Velocardiofacial Syndrome Diagnosis
Velocardiofacial Syndrome is usually diagnosed in individual with submiscoscopic deletion of chromosome 22 detected by fluorescence in situ hybridization or FISH through the use of DNA probes from the DiGeorge Chromosomal Region or the DGCR. Considering that this condition is also inherited, prenatal testing such as amniocentesis may also be administered to mother whose pregnancies are determined to be at risk or those whose mothers whose pregnancies have findings of congenital heart disease and cleft palate as detected by ultrasound examination.
Velocardiofacial Syndrome Symptoms and Signs
Person suffering from this kind of disease may suffer from a wide range of symptoms, the most prevalent are the following: Congenital heart Disease, this symptom is usually the most common especially tetralogy of fallot, interrupted aortic arch and ventricular septal defect; Palatal Abnormalities especially velopharyngeal Incompetence or the VPI, submucosal cleft palate and cleft palate including hypertelorism; Difficulty in learning and even autism; Immune Deficiency which causes the reoccurring viral and fungal infections due to the immune system's T-cell mediated response because of the absence of hypoplasiac thymus; Hypocalcemia; Renal anomalies; hearing loss which may be both conductive and sensorineural and layngotracheoesophageal anomalies; Growth hormone deficiency, skeletal abnormalities.
Velocardiofacial Syndrome Treatment
Treatment is usually symptomatic. Antibiotics are often administered to patients with antibiotics. Cardiac Surgery is also advised for person with heart abnormalities. Vitamin D treatment is usually required to person with hypoparathyroidism which causes hypocalcaemia. Thymus transplantation is also administered in person having the compelete symptoms of the syndrome itself (.Markert ML, Devlin BH, Alexieff MJ, et al (2007). "Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants". Blood 109 (10): 4539-47).