Orphanet: Achondrogenesis

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Disease definition

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.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q77.0
  • ICD-11: LD24.50
  • OMIM: 200600  200610  600972
  • UMLS: C0001079
  • MeSH: -
  • GARD: 2882
  • MedDRA: 10066122
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