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://www.orphadata.org. Data version September 2024
Newly diagnosed with
Achondrogenesis type 2?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.