Rare diseases · Sign or symptom

Abnormality of the philtrum

HP:0000288

What it means

An abnormality of the philtrum.

The paralabial region is the region surrounding the lips and includes the philtrum.

Rare diseases that can present with this13

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: Abnormal philtrum · Abnormality of the infranasal depression · Abnormality of the paralabial region

Abnormality of the philtrum

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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.