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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Achondrogenesis type 2?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.