Velocardiofacial Syndrome

What is Velocardiofacial Syndrome?

• Velocardiofacial syndrome is a chromosomal disorder that results in poor development of several body systems. Its features vary widely, even among members of the same family.

What?

• Velocardiofacial Syndrome is most common to happen during birth or growth and development. The disease is a deletion process up to 30-40 genes and 3,000,000 DNA base pairs.

Causes of Velocardiofacial Sydrome:?

Cause

• In chromosome number 22 there is a small piece of deletion of about 3,00,000 DNA base pairs that contains about 30-40 genes, but some people will have a smaller deletion pair. The additional reasons can be because of the heart defects or the cleft palate as signs. This is caused by the copying failure of chromosome 22 when the sperm meets the egg and the chromosome is copied wrong and along with that, the chromosome misses 3 million building blocks during the process of mitosis.

Symptoms and Other Conditions:

Symptoms

• Congenital heart disease: (74% of individuals), particularly conotruncal malformations (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, and truncus arteriosus)
• Palatal abnormalities: (69%), particularly velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate
• Characteristic facial features: (present in the majority of individuals of northern European heritage)
• Learning difficulties: (70%-90%)

• An immune deficiency: (regardless of the clinical presentation) (77%)
• Significant feeding and swallowing problems; constipation with or without structural gastrointestinal anomalies (intestinal malrotation, imperforate anus, and Hirschsprung disease)
• Renal anomalies (31%)
• Hearing loss (both conductive and sensorineural)
• Growth hormone deficiency
• Autoimmune disorders
• CNS anomalies including tethered cord
• Skeletal abnormalities (scoliosis with or without vertebral anomalies, clubbed feet, polydactyly, and craniosynostosis)

Diagnosis?:

Diagnosis

• The diagnosis is first started with medical instruments capable of viewing the deletion. The patient’s diseases are first detected by fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), or chromosomal microarray (CMA). Only about 5% of the diseases are found by FISH, but changes are likely to happen with atypical or nested deletions by the DiGeorge chromosome region (DGCR). Most of the diseases are found by MLPA.

Possible Treatments:

Treatments

The treatments can only treat the condition, this is a rare disease so therefore, it cannot be cured in anyway. This condition can only be treated by high-trained people such as:

• Pediatricians- Medical care of infants, children, and adolescents.
• Geneticists- Studies genetics
• Cardiologists- Treatment of heart diseases and heart abnormalities.
• Immunologists- Diagnosis and treatment of allergies, asthma and immune deficiency
• ENT Specialists- Ear, Nose, and Throat abnormalities
• Oral and Maxillofacial Surgeons- Facial surgeons

It is possible for the person to live along the syndrome if treated.