Spondylo-megaepiphyseal-metaphyseal dysplasia

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Spondylo-megaepiphyseal-metaphyseal dysplasia

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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