Rare diseases · Sign or symptom
Absent septum pellucidum
HP:0001331
What it means
Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm.
In contrast to the septum pellucidum, the cavum septum pellucidum (CSP) is a potential cavity between the membranous leaves of the septum pellucidum, separated by at least 1 mm, and is considered a normal anatomical variation.
Rare diseases that can present with this20
Common30–79%
5Sometimes5–29%
10- Hydrocephalus with stenosis of the aqueduct of Sylvius
- Ichthyosis follicularis-alopecia-photophobia syndrome
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy
- Kleefstra syndrome due to 9q34 microdeletion
- Lenz-Majewski hyperostotic dysplasia
- Marden-Walker syndrome
- Microgastria-limb reduction defect syndrome
- Microphthalmia with linear skin defects syndrome
and 2 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Absence of septum pellucidum · Absence of the septum pellucidum · Agenesis of the septum pellucidum · Missing septum pellucidum
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.