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Dyggve-Melchior-Clausen disease

Disease definition

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)


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: Q77.7
  • ICD-11: LD24.3
  • OMIM: 223800  304950
  • UMLS: C0265286
  • MeSH: C535726
  • GARD: 6295
  • MedDRA: -
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