Atelosteogenesis type II

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Synonyms: AO2 | AOII | Atelosteogenesis type 2 | De la Chapelle dysplasia | Neonatal osseous dysplasia type 1

A rare lethal perinatal bone dysplasia characterized by limb shortening normal sized skull with cleft palate hitchhiker thumbs distinctive facial dysmorphism and radiographic skeletal features caused by mutations in the diastrophic dysplasia sulfate transporter gene.

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 July 2024

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Atelosteogenesis type II?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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