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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
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The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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