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Dysspondyloenchondromatosis
Disease definition
Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.
ORPHA:85198
Classification level: Disorder- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant or Not applicable
- Age of onset: Neonatal, Infancy
- ICD-10: Q78.4
- ICD-11: LD24.2Y
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2015) Français (2015) Italiano (2015) Nederlands (2015) Polski (2017, pdf)
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Further information on this disease
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