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Start free with EleplanSepto-optic dysplasia spectrum
ORPHA:3157Malformation syndrome
Also called De Morsier syndrome · SOD · Septo-optic dysplasia
What it is
A rare clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.
Key facts
- Prevalence
- 1-5 / 10 000 (at birth, Europe)
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
12Sometimes5–29%
18- Abnormal cardiovascular system morphology
- Anosmia
- Aplasia/Hypoplasia of the cerebellum
- Autism
- Constipation
- Diabetes insipidus
- Dry skin
- Esophageal atresia
and 10 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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