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Achondrogenesis type 2

Disease definition

A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by 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

Classification level: Subtype of disorder
  • Synonym(s):
    • Achondrogenesis, Langer-Saldino type
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q77.0
  • ICD-11: LD24.50
  • OMIM: 200610
  • UMLS: C0220685
  • MeSH: C536017
  • GARD: 8713
  • MedDRA: -

  A summary on this disease is available in Español (2014) Français (2014) Nederlands (2014)

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.