Autosomal dominant brachyolmia
Autosomal dominant brachyolmia
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.
Also known as brachyolmia type 3, brachyolmia, autosomal dominant — per MONDO