Rare diseases · Sign or symptom
Bulbous nose
HP:0000414
What it means
Increased volume and globular shape of the anteroinferior aspect of the nose.
This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip.
Rare diseases that can present with this83
Very common80–99%
23- 22q11.2deletion syndrome
- 3M syndrome
- 9q33.3q34.11microdeletion syndrome
- Barber-Say syndrome
- Beemer-Ertbruggen syndrome
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Cernunnos-XLF deficiency
- Distal monosomy 7q36 syndrome
- Familial osteodysplasia, Anderson type
- FOXG1 syndrome due to 14q12 microdeletion
- Gabriele-de Vries syndrome
- Hamel cerebro-palato-cardiac syndrome
- Hernández-Aguirre Negrete syndrome
- Intellectual disability, Wolff type
- Kapur-Toriello syndrome
- Koolen-De Vries syndrome
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Paternal 20q13.2q13.3 microdeletion syndrome
- Thakker-Donnai syndrome
- Trichorhinophalangeal syndrome type 1
- Trichorhinophalangeal syndrome type 2
- X-linked intellectual disability, Shashi type
- Xq27.3q28duplication syndrome
Common30–79%
30- 16p12.1p12.3triplication syndrome
- 1q21.1microdeletion syndrome
- 21q22.11q22.12microdeletion syndrome
- 2q23.1microduplication syndrome
- 2q31.1microdeletion syndrome
- Acrofacial dysostosis, Palagonia type
- Acromicric dysplasia
- Blepharophimosis-intellectual disability syndrome, MKB type
- Congenital hydrocephalus
- Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
- DOORS syndrome
- Focal facial dermal dysplasia type I
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
- Intellectual disability-balding-patella luxation-acromicria syndrome
- Lathosterolosis
- Mosaic trisomy 9 syndrome
- MYT1L-related developmental delay-intellectual disability-obesity syndrome
- Non-progressive cerebellar ataxia with intellectual disability
- Orofaciodigital syndrome type 14
- Phelan-McDermid syndrome
- Polysyndactyly-cardiac malformation syndrome
- PYCR2-related microcephaly-progressive leukoencephalopathy
- Ring chromosome 22 syndrome
- Schuurs-Hoeijmakers syndrome
- Seizures-scoliosis-macrocephaly syndrome
- Severe intellectual disability and progressive spastic paraplegia
- Syndactyly-telecanthus-anogenital and renal malformations syndrome
- X-linked intellectual disability, Porteous type
- Zimmermann-Laband syndrome
Sometimes5–29%
27- 16p11.2p12.2microdeletion syndrome
- 17q23.1q23.2microdeletion syndrome
- 20q13.33microdeletion syndrome
- 6q16microdeletion syndrome
- Andersen-Tawil syndrome
- Bainbridge-Ropers syndrome
- Blepharophimosis-intellectual disability syndrome, Verloes type
- Cardiac-valvular Ehlers-Danlos syndrome
and 19 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: Bulbous nasal tip · Potato nose
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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.