Autosomal dominant brachyolmia
ORPHA:93304· ICD-10 Q76.3
Definition
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.
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood