How many major features are needed for a diagnosis of Septo-Optic Dysplasia?

Septo-Optic Dysplasia, also known as De Morsier's syndrome, is a genetic condition marked by a triad of major features: optic nerve hypoplasia, absence of the septum pellucidum, and pituitary hormone deficiencies. To establish a diagnosis of this condition, the presence of at least two of these features is required. This diagnostic criterion reflects the necessity of a combination of anomalies that define the syndrome, as having only one of these features may not be sufficient to establish the diagnosis.

The need for two major features underscores the complexity and variability seen in patients with this condition, while also recognizing that not all individuals with the disorder will present with all three features. Furthermore, requiring two features ensures a more accurate diagnosis, which can guide appropriate management and intervention strategies for affected individuals.