Dyggve-Melchior-Clausen disease

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A rare genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism protruding sternum microcephaly intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates irregularly ossified femoral heads a hypoplastic odontoid and a lace-like appearance of iliac crests)

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 July 2024

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Dyggve-Melchior-Clausen disease?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.