Autosomal dominant type brachyolmi
Engelsk navn: Autosomal dominant brachyolmia
Engelske synonym: Brachyolmia type 3
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.
Informasjon
TRS kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.
ORPHA: 93304
Klassifiseringsnivå: DisorderICD-10: Q76.3