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Achondrogenesis type 2

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.

ORPHA:93296

  • Synonym(s):
    • Achondrogenesis, Langer-Saldino type
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q77.0
  • OMIM: 200610
  • UMLS: C0220685
  • MeSH: C536017
  • GARD: 8713
  • MedDRA: -

Additional information

Further information on this disease

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