What Are The Symptoms Of Velocardiofacial Syndrome?

Velocardiofacial syndrome is a condition characterized by numerous problems in the body that may include feeding issues, speech issues, low calcium levels, behavioral issues, facial deformities, learning problems, impaired immunity, and renal problems. Velocardiofacial syndrome occurs when there is a spontaneous or inherited genetic abnormality in chromosome 22, where the q11.2 section of the chromosome is absent.

Only a handful of specific genes have been identified out of all of the missing genes that can explain some of the features of velocardiofacial syndrome patients. Diagnosis of velocardiofacial syndrome is made based on findings in physical examination, medical history, and fluorescence in situ hybridization blood test. Once the gene deletion has been detected, the different features of the condition can be treated individually.

Cleft Palate

Individuals affected by velocardiofacial syndrome may have the characteristic birth defect referred to as a cleft palate. Cleft palate describes a defect where two sections of the individual's skull that develop into the hard palate fail to fuse completely. A gap or cleft is also seen in a patient's soft palate. A gap in the jaw may be present in individuals who have a complete cleft palate. A cleft palate may appear to look like a hole in the roof of the mouth of an individual affected by an incomplete cleft palate.

Velocardiofacial syndrome patients have a deletion in the TBX1 gene. The mechanism and phenotype in this gene that causes the cleft palate are not fully understood, but it is thought to involve an increased tongue height, a perturbed proliferation of certain cells, abnormal elevation of the palatal shelf, and or reduced palatal shelf width. Corrective surgery for the cleft palate can help prevent dental problems, low self-confidence, ear infections, feeding problems, and speech issues.