Rare diseases · Sign or symptom
Abnormal vertebral morphology
HP:0003468
What it means
An abnormality of one or more of the vertebrae.
A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone).
Rare diseases that can present with this39
Very common80–99%
9- Autosomal recessive otospondylomegaepiphyseal dysplasia
- Dermotrichic syndrome
- Fibrodysplasia ossificans progressiva
- Galactosialidosis
- Hurler-Scheie syndrome
- Hurler syndrome
- Maternal uniparental disomy of chromosome 9 syndrome
- Primary basilar invagination
- Spondylometaphyseal dysplasia, 'corner fracture' type
Common30–79%
12- Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
- Cleft palate-short stature-vertebral anomalies syndrome
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- Juberg-Hayward syndrome
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Septopreoptic holoprosencephaly
- Spondylodysplastic Ehlers-Danlos syndrome
- Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- Spondyloepimetaphyseal dysplasia, Shohat type
- Spondyloepiphyseal dysplasia tarda, Kohn type
- Wolf-Hirschhorn syndrome
Sometimes5–29%
14- 17q12microduplication syndrome
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Aspartylglucosaminuria
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Congenital alveolar capillary dysplasia
- Esophageal atresia
- Gorlin syndrome
- Ichthyosis follicularis-alopecia-photophobia syndrome
and 6 more in this range
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 vertebrae · Abnormality of the vertebrae · Multiple vertebral anomalies · Vertebral anomalies
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.