Atelosteogenesis type II

MONDO:0009727

A 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.

Also known as: AO2, AOII, atelosteogenesis type 2, atelosteogenesis type II, neonatal osseous dysplasia type 1, De 50A Chapelle dysplasia, De la Chapelle dysplasia, atelosteogenesis II

1 clinical trial for this condition and its sub-types, 0 tagged with Atelosteogenesis type II itself.

Follow this condition to get notified about new trials

Where it sits in the disease tree

Browse by category →

Part of

↑ Inborn errors of metabolism (2228) ↑ Mineral metabolism disease (137) ↑ SLC26A2-related skeletal dysplasia (2) ↑ Atelosteogenesis (0)

Including sub-types (1) Tagged with Atelosteogenesis type II (0)

We haven't found any trials for this condition yet. Follow it to get notified when new trials appear.