Rare diseases · Sign or symptom
Disproportionate short-trunk short stature
Disproportionate short-trunked dwarfism
HP:0003521
What it means
A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.
Rare diseases that can present with this16
Very common80–99%
7Common30–79%
7- Kniest dysplasia
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Schimke immuno-osseous dysplasia
- Spondyloepimetaphyseal dysplasia, Handigodu type
- Spondyloepiphyseal dysplasia tarda, Kohn type
- Spondylometaphyseal dysplasia, 'corner fracture' type
- Spondylometaphyseal dysplasia, Schmidt type
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: Disproportionate short-trunked short stature · Short-trunked dwarfism
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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.