Rare diseases · Sign or symptom
Short nose
Decreased length of nose
HP:0003196
What it means
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Note: a small nose has both decreased height and a decreased width. These should be coded separately.
Rare diseases that can present with this195
Very common80–99%
80- 14q11.2microdeletion syndrome
- 17p13.3microduplication syndrome
- Achondrogenesis
- Achondrogenesis type 1A
- Achondrogenesis type 1B
- Acrocephalopolydactyly
- Acrodysostosis
- Acrofacial dysostosis, Catania type
- Acromicric dysplasia
- Adenylosuccinate lyase deficiency
- Antley-Bixler syndrome
- Aspartylglucosaminuria
- Autosomal dominant Robinow syndrome
- Autosomal recessive cutis laxa type 2, classic type
- Autosomal recessive faciodigitogenital syndrome
- Autosomal recessive Robinow syndrome
- Blomstrand lethal chondrodysplasia
- Brachytelephalangic chondrodysplasia punctata
- Brachytelephalangy-dysmorphism-Kallmann syndrome
- Carey-Fineman-Ziter syndrome
- CODAS syndrome
- Congenital heart defect-round face-developmental delay syndrome
- Cornelia de Lange syndrome
- Cortical blindness-intellectual disability-polydactyly syndrome
- Craniodigital-intellectual disability syndrome
- Craniofacial-deafness-hand syndrome
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- C syndrome
- Dermotrichic syndrome
- Difference of sex development-intellectual disability syndrome
- Distal deletion 9p syndrome
- Distal duplication 18q syndrome
- Donnai-Barrow syndrome
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- Encephalopathy due to sulfite oxidase deficiency
- Fetal hydantoin syndrome
- Fetal trimethadione syndrome
- Fetal valproate spectrum disorder
- Frontofacionasal dysplasia
- Hypomandibular faciocranial dysostosis
- Isolated rhombencephalosynapsis
- Johanson-Blizzard syndrome
- Kleefstra syndrome
- Kleefstra syndrome due to 9q34 microdeletion
- Mandibulofacial dysostosis-microcephaly syndrome
- Marshall syndrome
- Maxillonasal dysplasia
- Microlissencephaly-micromelia syndrome
- Microphthalmia-microtia-fetal akinesia syndrome
- Micro syndrome
- Mietens syndrome
- Miller-Dieker syndrome
- Musculocontractural Ehlers-Danlos syndrome
- Non-distal duplication 10q syndrome
- Non-distal duplication 13q syndrome
- Noonan syndrome-like disorder with loose anagen hair
- Opsismodysplasia
- Orofaciodigital syndrome type 4
- Otopalatodigital syndrome type 2
- PDE4D haploinsufficiency syndrome
- PEHO syndrome
- Penile agenesis
- Perlman syndrome
- Pfeiffer syndrome type 1
- Pfeiffer syndrome type 2
- Pfeiffer syndrome type 3
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Prominent glabella-microcephaly-hypogenitalism syndrome
- Rhizomelic dysplasia, Patterson-Lowry type
- Ring chromosome 8 syndrome
- Ruvalcaba syndrome
- Schinzel-Giedion syndrome
- Spinocerebellar ataxia-dysmorphism syndrome
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
- Stickler syndrome
- Stickler syndrome type 1
- Tetrasomy 5p syndrome
- Toriello-Carey syndrome
- Trisomy 12p syndrome
- Vitamin K antagonist embryofetopathy
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: Hypoplastic nose · Nasal hypoplasia · Shortened nose · Small 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.