Rare diseases · Sign or symptom
Metaphyseal widening
Broad wide portion of long bone
HP:0003016
What it means
Abnormal widening of the metaphyseal regions of long bones.
Rare diseases that can present with this17
Very common80–99%
3Common30–79%
9- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- Frontometaphyseal dysplasia
- Kniest dysplasia
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
- Ossification anomalies-psychomotor developmental delay syndrome
- Osteoporosis-pseudoglioma syndrome
- Pseudoachondroplasia
- Spondyloepimetaphyseal dysplasia, Shohat type
- Spondylometaphyseal dysplasia, Kozlowski 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: Wide metaphyses · Widened long bone metaphyses · Widened metaphyses
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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.