Synonyms: AO1 | AOI | Atelosteogenesis type 1 | Giant cell chondrodysplasia | Spondylo-humero-femoral dysplasia
A Pierre Robin syndrome associated with bone disease characterized by severe short-limbed dwarfism joint dislocations club feet along with distinctive facies and radiographic findings.
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 February 2026
Newly diagnosed with
Atelosteogenesis type I?
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Advocacy Organizations
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.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.