Rare diseases · Sign or symptom
Prominent nose
Big nose
HP:0000448
What it means
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
Rare diseases that can present with this51
Very common80–99%
15- Achalasia-microcephaly syndrome
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Bowen-Conradi syndrome
- Familial osteodysplasia, Anderson type
- Genitopatellar syndrome
- McDonough syndrome
- Microcephalic osteodysplastic primordial dwarfism type II
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Nance-Horan syndrome
- Neonatal hemochromatosis
- Nijmegen breakage syndrome
- Paternal uniparental disomy of chromosome 6 syndrome
- Pseudoleprechaunism syndrome, Patterson type
- Radioulnar synostosis-developmental delay-hypotonia syndrome
- X-linked intellectual disability, Cabezas type
Common30–79%
20- 19p13.3microduplication syndrome
- 2q23.1microduplication syndrome
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Baraitser-Winter cerebrofrontofacial syndrome
- Blepharophimosis-intellectual disability syndrome, MKB type
- Brachymorphism-onychodysplasia-dysphalangism syndrome
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
- COG5-CDG
- FG syndrome type 1
- Hall-Riggs syndrome
- Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
- Laurin-Sandrow syndrome
- Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- Microcephalic primordial dwarfism, Dauber type
- Monosomy 13q34 syndrome
- PMM2-CDG
- Proximal 3p25.3 microdeletion syndrome
- Pycnodysostosis
- Renpenning syndrome
- X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Sometimes5–29%
16- 7q31microdeletion syndrome
- Autosomal recessive spastic paraplegia type 20
- Blepharophimosis-intellectual disability syndrome, Verloes type
- Congenital insensitivity to pain with severe intellectual disability
- Deafness with labyrinthine aplasia, microtia, and microdontia
- Distal deletion 10q syndrome
- Intellectual disability-strabismus syndrome
- MAN1B1-CDG
and 8 more in this range
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: Disproportionately large nose · Hyperplasia of nose · Hypertrophy of nose · Increased nasal size · Increased size of nose · Large nose · Nasal hyperplasia · Nasal hypertrophy
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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.