Synonyms: Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome
A rare genetic bone disease characterized by short stature bilateral congenital hip dislocation radial head dislocation carpal coalition scoliosis pes cavus and atlantoaxial subluxation. Dysmorphic facial features include broad forehead broad nasal bridge hypertelorism and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.
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 April 2026
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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
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