Atelosteogenesis type I

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Atelosteogenesis type I

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 Data version April 2024

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Atelosteogenesis type I?

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