[4] French-Swiss doctor Georges de Morsier first recognized the relation of a rudimentary or absent septum pellucidum with hypoplasia of the optic nerves and chiasm in 1956.

[8] In SOD, mid-line brain structures such as the corpus callosum and the septum pellucidum may fail to develop normally, leading to neurological problems such as seizures or developmental delay.

Additional features associated with SOX2 mutations include developmental delay, oesophageal atresia, short stature and sensorineural hearing loss.

[6] Treatment aims to manage symptoms and may require a multidisciplinary team of specialists including neurologists, ophthalmologists and endocrinologists.

[3] A European survey put the prevalence of SOD at somewhere in the region of 1.9 to 2.5 per 100,000 live births, with the United Kingdom having a particularly high rate and with increased risk for younger mothers.

[10] In 1941 David Reeves at the Children's Hospital Los Angeles described an association between underdevelopment of the optic nerve with an absent septum pellucidum.

Fifteen years later French doctor Georges de Morsier reported his theory that the two abnormalities were connected and coined the term septo-optic dysplasia.

In 1970 American doctor William Hoyt made the connection between the three features of SOD and named the syndrome after de Morsier.