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Synonym(s) -
Prevalence Unknown
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset Neonatal
  • Q77.0
  • C0001079
MeSH -
  • 10066122


Disease definition

Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2 (see these terms).

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