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

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