Septo-optic dysplasia, also called de Morsier syndrome, is a rare congenital malformation syndrome combining underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum, a midline part of the brain. Clinical diagnosis requires at least two of these three features, since only about 30 percent of patients present all three. French-Swiss physician Georges de Morsier identified the connection between a rudimentary or absent septum pellucidum and hypoplasia of the optic nerves and chiasm in 1956.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable First Described Sources
1. National Library of Medicine: MeSH Descriptor Data: Septo-Optic Dysplasia
National Library of MedicineMeSH tree number C10.500.760.500
A condition resulting from congenital malformations involving the brain.
MeSH tree number C11.590.436.400.875
A condition resulting from congenital malformations involving the brain.
View the Source 2. World Health Organization: ICD-10 Version:2019 - Q04.4
World Health OrganizationICD-10 2019 category Q04.4, Chapter XVIIQuote, ICD-10 2019 category Q04.4, Chapter XVII
Q04.4 Septo-optic dysplasia
3. Septo-optic dysplasia (Wikipedia)
Lead: disease category
Septo-optic dysplasia (SOD), known also as de Morsier syndrome, is a rare congenital malformation syndrome that features a combination of the underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain).
History section
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.
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