Rare diseases · Sign or symptom
Proboscis
HP:0012806
What it means
A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline.
A proboscis has a single cavity. It may be found in association with a malformed nose and absence of one or both nares.
Rare diseases that can present with this5
Sometimes5–29%
3The 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
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.