Brachyolmia-amelogenesis imperfecta syndrome
Synonyms: Platyspondyly-amelogenesis imperfecta syndrome | Verloes-Bourguignon syndrome
An exceedingly rare form of brachyolmia characterized by mild platyspondyly broad ilia elongated femoral necks with coxa valga scoliosis and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Brachyolmia-amelogenesis imperfecta syndrome?
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Advocacy Organizations
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.