What is the underlying cause of cleft palate observed in DiGeorge syndrome?

Cleft palate in DiGeorge syndrome primarily arises due to defective neural crest cell migration. DiGeorge syndrome, or 22q11.2 deletion syndrome, is characterized by a deletion of a segment of chromosome 22 that results in various developmental anomalies. The neural crest cells are essential during embryogenesis as they contribute to the formation of numerous structures, including the facial skeleton, palate, and other critical components of the head and neck.

In the case of DiGeorge syndrome, the disruption in the development and migration of these neural crest cells leads to inadequate formation of the palatine shelves, which is critical for the fusion of the hard and soft palate. This failure of fusion results in the presentation of a cleft palate, a hallmark feature of the condition. Understanding the role of neural crest cells provides insight into the developmental biology behind this and other craniofacial abnormalities associated with the syndrome.

While other factors such as chromosomal abnormalities, environmental influences, and maternal folate deficiency are crucial in understanding different causes of congenital malformations, the specific mechanism behind cleft palate in DiGeorge syndrome is intricately linked to the improper migration of neural crest cells during embryonic development.