Rare diseases · Sign or symptom
Cone-shaped epiphysis
Cone-shaped end part of bone
HP:0010579
What it means
Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.
Rare diseases that can present with this24
Very common80–99%
9- Acrocapitofemoral dysplasia
- Acrodysostosis
- Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
- Léri-Weill dyschondrosteosis
- Odontochondrodysplasia
- Paraplegia-intellectual disability-hyperkeratosis syndrome
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Ruvalcaba syndrome
- Trichorhinophalangeal syndrome type 1
Common30–79%
10The 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: Cone-shaped epiphyses · Coned epiphyses
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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.