/autosomal dominant brachyolmia

autosomal dominant brachyolmia

Rare Disease

MONDO:0007232

Also Known As

brachyolmia type 3brachyolmia, autosomal dominantBCYM3brachyolmia autosomal dominantbrachyrachia

Definition

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.