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Achondrogenesis type 2

Synonym(s) Achondrogenesis, Langer-Saldino type
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Antenatal
  • Q77.0
  • C0220685
  • C536017
MedDRA -


Disease definition

Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.

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