Autosomal dominant brachyolmia

MONDO:0007232

Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.

Also known as: brachyolmia type 3, brachyolmia, autosomal dominant, BCYM3, brachyolmia autosomal dominant, brachyrachia

0 clinical trials for this condition and its sub-types, 0 tagged with Autosomal dominant brachyolmia itself.

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↑ Autosomal dominant disease (699) ↑ TRPV4-related bone disorder (0) ↑ Brachyolmia (0)

Including sub-types (0) Tagged with Autosomal dominant brachyolmia (0)

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