Rare diseases · Sign or symptom
Metaphyseal chondrodysplasia
HP:0005871
What it means
An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.
The term metaphyseal chondrodysplasia is usually used to describe a disease but is often also used to describe the corresponding phenotypic appearance. This use is retained in the HPO for convenience, but if possible a precise phenotypic description is preferred.
Rare diseases that can present with this9
Very common80–99%
6- Cartilage-hair hypoplasia
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
- Metaphyseal chondrodysplasia, Spahr type
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
- Spondylometaphyseal dysplasia, Sedaghatian type
- X-linked dominant chondrodysplasia, Chassaing-Lacombe 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
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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.