Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:239

Dyggve-Melchior-Clausen disease

Body system
Bone diseases
Inheritance pattern
Autosomal recessive
Typical age of onset
Infancy
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:239 is classified under "Bone diseases" in the Orphanet nomenclature.

Common signs

  • Intellectual disability
  • Failure to thrive
  • Spondyloepimetaphyseal dysplasia
  • Disproportionate short-trunk short stature
  • Iliac crest serration
  • Rhizomelia