Dyggve-Melchior-Clausen disease

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Dyggve-Melchior-Clausen disease

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 December 2023

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