What Are The Symptoms Of Velocardiofacial Syndrome?

Distinctive Facial Features

Velocardiofacial syndrome patients tend to exhibit distinctive facial features healthy individuals would not usually have. Abnormalities or deletion of the TBX1 gene can cause craniofacial dysmorphism, but the mechanism behind this process is not clear. Craniofacial dysmorphism is a group of anomalies or malformations of the craniofacial region. The patient's face may exhibit a nasal tip that can be described as bulbous, parietal bones that are more prominent than normal, and a round shape during their infancy.

In the individual's older years, their face tends to appear hypotonic and long, features narrow palpebral fissures, a squared nasal, thin alae nasi and narrow alar base, and puffy upper eyelids. A patient may have low set ears, a down-slanted mouth, cheeks that appear flat, blue discoloration underneath the eyes, cleft lip or palate, an underdeveloped lower jaw, and a thin upper lip.