Rare diseases · Sign or symptom
Mesomelia
Disproportionately short middle portion of limb
HP:0003027
What it means
Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.
Shortening of the limbs where the predominant shortness is in the middle bones.
Rare diseases that can present with this20
Very common80–99%
15- Aminopterin/methotrexate embryofetopathy
- Autosomal recessive Robinow syndrome
- Blomstrand lethal chondrodysplasia
- Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
- Cartilage-hair hypoplasia
- Léri-Weill dyschondrosteosis
- Mesomelia-synostoses syndrome
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- Mesomelic dysplasia, Kantaputra type
- Mesomelic dysplasia, Nievergelt type
- Mesomelic dysplasia, Savarirayan type
- Ophthalmomandibulomelic dysplasia
- Robinow syndrome
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Ulna hypoplasia-intellectual disability syndrome
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: Mesomelic limb shortening · Mesomelic shortening of limbs · Symmetric mesomelic limb shortness
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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.