Autosomal dominant brachyolmia
Synonyms: 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Autosomal dominant brachyolmia?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
For a list of clinical trials in this disease area, please click here.