Rare diseases · Sign or symptom
Disproportionate short stature
HP:0003498
What it means
A kind of short stature in which different regions of the body are shortened to differing extents.
Rare diseases that can present with this21
Very common80–99%
12- Achondrogenesis type 1B
- Achondroplasia
- Autosomal recessive otospondylomegaepiphyseal dysplasia
- Heart defects-limb shortening syndrome
- Kniest dysplasia
- Kyphomelic dysplasia
- Mesomelic dwarfism, Reinhardt-Pfeiffer type
- Metaphyseal chondrodysplasia, Spahr type
- Microcephalic osteodysplastic primordial dwarfism type II
- Phocomelia, Schinzel type
- Short stature-valvular heart disease-characteristic facies syndrome
- Spondylometaphyseal dysplasia, Sedaghatian type
Common30–79%
8- Acromesomelic dysplasia, Maroteaux type
- Multiple epiphyseal dysplasia type 4
- Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Spondylocarpotarsal synostosis
- Spondyloepimetaphyseal dysplasia, Missouri type
- Spondyloepimetaphyseal dysplasia, Shohat type
- Spondyloperipheral dysplasia-short ulna syndrome
- X-linked hypophosphatemia
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 stature, disproportionate · Short stature, severe disproportionate
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.