Rare diseases · Sign or symptom
Abnormal cortical bone morphology
HP:0003103
What it means
An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.
Rare diseases that can present with this23
Very common80–99%
16- Cranio-osteoarthropathy
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
- Endosteal hyperostosis, Worth type
- Familial osteodysplasia, Anderson type
- Ghosal hematodiaphyseal dysplasia
- Grant syndrome
- Hereditary sensory and autonomic neuropathy type 2
- Hyperostosis corticalis generalisata
- Lenz-Majewski hyperostotic dysplasia
- Melnick-Needles syndrome
- Melorheostosis with osteopoikilosis
- Metatropic dysplasia
- Pachydermoperiostosis
- Sclerosteosis
- Stüve-Wiedemann syndrome
- Weismann-Netter syndrome
Common30–79%
6The 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: Abnormal compact bone morphology · Abnormality of cortical bone
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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.