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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 disorderA summary on this disease is available in Español (2014) Français (2014) Nederlands (2014)
Detailed information
Disease review articles
- Clinical genetics review
- English (2019) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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