Aneurysm-osteoarthritis syndrome
A rare genetic systemic disease characterized by the presence of arterial aneurysms tortuosity and dissection throughout the arterial tree associated with early-onset osteoarthritis (predominantly affecting the spine hands and/or wrists and knees) and mild craniofacial dysmorphism (incl. long face high forehead flat supraorbital ridges hypertelorism malar hypoplasia and anomalies of the palate and uvula) as well as mild skeletal and cutaneous anomalies. Joint abnormalities such as osteochondritis dissecans and intervertebral disc degeneration are frequently associated. Additional cardiovascular anomalies may include mitral valve defects congenital heart malformations ventricular hypertrophy and atrial fibrillation.
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 April 2024
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Aneurysm-osteoarthritis syndrome?
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Advocacy Organizations
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 Marfan Foundation
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes.
Clinical Trials
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