Rare diseases · Sign or symptom
Prominent nasal tip
Large nasal tip
HP:0005274
Rare diseases that can present with this13
Common30–79%
7Sometimes5–29%
6- 15q13.3microdeletion syndrome
- Autism spectrum disorder due to AUTS2 deficiency
- Blepharophimosis-intellectual disability syndrome, Verloes type
- Dihydropyrimidine dehydrogenase deficiency
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- PDE4D haploinsufficiency syndrome
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: Bulbous tip of nose · Hyperplasia of nasal tip · Hyperplasia of tip of nose · Hypertrophy of nasal tip · Hypertrophy of tip of nose · Large tip of nose · Prominent tip of nose · Pronounced nasal tip
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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.