Rare diseases · Sign or symptom

Encephalocele

HP:0002084

What it means

A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.

A congenital gap in the skull that usually results in a protrusion of brain material.

Rare diseases that can present with this38

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: Bifid skull · Cranium bifidum

Encephalocele

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This 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.