Rare diseases · Sign or symptom
Abnormal vertebral body morphology
HP:0003312
What it means
Abnormal form of vertebral body, which is the central cylindrical portion of the vertebra that together with other structures such as the vertebral arch, pedicles, laminae, spinous process, transverse processes, and articular facets makes up a vertebra.
Rare diseases that can present with this98
Very common80–99%
44- Acrocraniofacial dysostosis
- Acrodysostosis
- Autosomal recessive spondylocostal dysostosis
- Axial mesodermal dysplasia spectrum
- Brachyolmia, Maroteaux type
- Camptodactyly syndrome, Guadalajara type 1
- Cardiospondylocarpofacial syndrome
- Cartilage-hair hypoplasia
- CHST3-related skeletal dysplasia
- CODAS syndrome
- Coffin-Lowry syndrome
- Cole-Carpenter syndrome
- Diastrophic dysplasia
- Distal deletion 17q syndrome
- Fibrochondrogenesis
- Geroderma osteodysplastica
- Ghosal hematodiaphyseal dysplasia
- Greenberg dysplasia
- Heart defects-limb shortening syndrome
- Hypochondroplasia
- Imperforate oropharynx-costovertebral anomalies syndrome
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- Kabuki syndrome
- Kyphomelic dysplasia
- Larsen-like osseous dysplasia-short stature syndrome
- Laryngotracheoesophageal cleft type 4
- Leri pleonosteosis
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- Metatropic dysplasia
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Mucolipidosis type III
- Mucopolysaccharidosis type 1
- Osteoglosphonic dysplasia
- PHAVER syndrome
- Postaxial polydactyly-dental and vertebral anomalies syndrome
- Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
- Proteus syndrome
- Radio-renal syndrome
- Rhizomelic dysplasia, Patterson-Lowry type
- Rhizomelic syndrome, Urbach type
- Schneckenbecken dysplasia
- Stickler syndrome
- Trisomy 20p syndrome
- Verloove Vanhorick-Brubakk syndrome
Common30–79%
30- Acrofacial dysostosis, Palagonia type
- Acromesomelic dysplasia, Maroteaux type
- Alagille syndrome
- Autosomal dominant Robinow syndrome
- Congenital amegakaryocytic thrombocytopenia
- Crouzon syndrome-acanthosis nigricans syndrome
- Deafness-epiphyseal dysplasia-short stature syndrome
- Endosteal hyperostosis, Worth type
- Familial osteodysplasia, Anderson type
- GAPO syndrome
- GM1 gangliosidosis
- Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
- Hypocalcemic vitamin D-resistant rickets
- Jacobsen syndrome
- Jung syndrome
- Lateral meningocele syndrome
- Metaphyseal chondrodysplasia, Rosenberg type
- Microphthalmia with limb anomalies
- Mucopolysaccharidosis type 3
- Multicentric osteolysis-nodulosis-arthropathy spectrum
- Neuronal intranuclear inclusion disease
- Osteogenesis imperfecta
- Osteomesopyknosis
- Pelvis-shoulder dysplasia
- Pseudoachondroplasia
- SCARF syndrome
- Sialidosis type 1
- VACTERL with hydrocephalus
- Weismann-Netter syndrome
- Wolf-Hirschhorn syndrome
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: Abnormal form of the vertebral bodies · Abnormal vertebral bodies · Abnormally shaped vertebrae
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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.