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Start free with EleplanSeptopreoptic holoprosencephaly
ORPHA:280195Clinical subtype
Also called Septopreoptic HPE
What it is
A rare subtype of holoprosencephaly characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. Midline craniofacial malformations are generally mild and include solitary median maxillary incisor and pyriform sinus stenosis. Other reported manifestations include language delay, learning difficulties, and behavioral disorders. Imaging reveals abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Multigenic/multifactorial
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- 1-5 / 10 000 (at birth, Europe)Holoprosencephaly
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Common30–79%
13- Abnormal corpus callosum morphology
- Abnormality of midbrain morphology
- Abnormal rib morphology
- Abnormal vertebral morphology
- Anterior hypopituitarism
- Central diabetes insipidus
- Expressive language delay
- Generalized hypotonia
- Impulsivity
- Intellectual disability
- Precocious puberty
- Short attention span
- Specific learning disability
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
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
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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