Rare diseases · Sign or symptom
Abnormality of the vertebral column
Abnormal spine
HP:0000925
What it means
Any abnormality of the vertebral column.
Rare diseases that can present with this30
Very common80–99%
10- Ankylosing vertebral hyperostosis with tylosis
- Camurati-Engelmann disease
- Galactosialidosis
- Isolated Klippel-Feil syndrome
- Monosomy 9q22.3 syndrome
- Progressive non-infectious anterior vertebral fusion
- Spinal arteriovenous metameric syndrome
- SPONASTRIME dysplasia
- Spondylometaphyseal dysplasia, Kozlowski type
- Spondylometaphyseal dysplasia, Schmidt type
Common30–79%
10- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Brachytelephalangic chondrodysplasia punctata
- Dyggve-Melchior-Clausen disease
- Enthesitis-related juvenile idiopathic arthritis
- Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- Limb body wall complex
- SAPHO syndrome
- Spondyloepimetaphyseal dysplasia, Handigodu type
- Wolf-Hirschhorn syndrome
Sometimes5–29%
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 vertebral column · Abnormality of the backbone · Abnormality of the spine
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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.