Rare diseases · Sign or symptom
Abnormal tibia morphology
Abnormality of the shankbone
HP:0002992
What it means
Abnormality of the tibia (shinbone).
Rare diseases that can present with this28
Very common80–99%
11- Boomerang dysplasia
- FATCO syndrome
- Fibular aplasia-complex brachydactyly syndrome
- Ghosal hematodiaphyseal dysplasia
- Léri-Weill dyschondrosteosis
- Mesomelia-synostoses syndrome
- Mesomelic dwarfism, Reinhardt-Pfeiffer type
- Mesomelic dysplasia, Nievergelt type
- Osteogenesis imperfecta
- Phocomelia, Schinzel type
- Weismann-Netter syndrome
Common30–79%
7The 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: Abnormality of the shinbone · Abnormality of tibia morphology
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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.