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Spondylo-megaepiphyseal-metaphyseal dysplasia
Disease definition
Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare, genetic primary bone displasia characterized by disproportionate short stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with frequent kyknodysostosis), markedly enlarged round epiphyses of the long bones, absent ossification of pubic bones and multiple pseudoepiphyses of the short tubular bones in hands and feet. Neurological manifestations resulting from cervical spine instability may be observed.
ORPHA:228387
Classification level: Disorder- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Infancy, Neonatal
- ICD-10: Q77.7
- OMIM: 613330
- UMLS: C2750066
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018)
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