Achondrogenesis type 2

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Achondrogenesis type 2

Synonyms: Achondrogenesis, Langer-Saldino type

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Achondrogenesis type 2?

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