Atelosteogenesis type II

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Atelosteogenesis type II

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 December 2023

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Atelosteogenesis type II?

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