Orphanet summary reviewed by ITHACA : Dyggve-Melchior-Clausen disease

Dyggve-Melchior-Clausen disease is 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

Dyggve-Melchior-Clausen diseasehas been codified on Orphanet (ORPHA:239) and the  summary reviwed by Dr Vincent EL GHOUZZI for the ERN ITHACA and published in January 2020

Follow the link to read the summary