Rare diseases · Sign or symptom

Ectopic anus

Abnormal anus position

HP:0004397

What it means

Abnormal displacement or malposition of the anus.

Rare diseases that can present with this24

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: Anus malposition

Ectopic anus

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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.