Rare diseases · Sign or symptom
Disproportionate short-limb short stature
Short limb dwarfism, disproportionate
HP:0008873
What it means
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
A type of dwarfism (marked short stature with adult height below 147 cm) in which the limbs are disproportionately affected. Note that brachymelia is a general term referring to shortening of the limbs. Micromelia refers to the shortening of entire limbs (in contrast to rhizomelia, mesomelia, and acromelia, which refer to shortening of the proximal, middle, or distal portions of the limbs).
Rare diseases that can present with this23
Very common80–99%
18- Acromesomelic dysplasia, Grebe type
- Astley-Kendall dysplasia
- Autosomal recessive Robinow syndrome
- Cartilage-hair hypoplasia
- Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
- Desbuquois syndrome
- Langer mesomelic dysplasia
- Léri-Weill dyschondrosteosis
- Peters plus syndrome
- Platyspondylic dysplasia, Torrance type
- Pseudoachondroplasia
- Pycnodysostosis
- Schneckenbecken dysplasia
- Short rib-polydactyly syndrome, Verma-Naumoff type
- SPONASTRIME dysplasia
- Spondyloepimetaphyseal dysplasia, Irapa type
- Thanatophoric dysplasia
- Thoracomelic dysplasia
Common30–79%
4The 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: Brachymelic dwarfism · Disproportionate short limb dwarfism · Dwarfism, short-limbed · Micromelic dwarfism · Short limb dwarfism · Short stature, disproportionate short limb · Short stature, disproportionate short-limb · Short-limb 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.