Rare diseases · Sign or symptom
Short long bone
Long bone shortening
HP:0003026
What it means
One or more abnormally short long bone.
Long bones are also known as tubular bones.
Rare diseases that can present with this33
Very common80–99%
5Common30–79%
19- Achondroplasia
- COG1-CDG
- Dyggve-Melchior-Clausen disease
- Dyssegmental dysplasia, Silverman-Handmaker type
- Focal dermal hypoplasia
- Geleophysic dysplasia
- Kniest dysplasia
- Metaphyseal chondrodysplasia, Schmid type
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
- Microphthalmia with limb anomalies
- Multiple epiphyseal dysplasia type 1
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Pseudoachondroplasia
- Pyknoachondrogenesis
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- Spondyloepimetaphyseal dysplasia, Shohat type
- Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
- Spondylometaphyseal dysplasia, 'corner fracture' type
- XYLT1-CDG
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: Short tubular bones · shortened long tubular bones
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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.