Aneurysm-osteoarthritis syndrome

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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 Data version May 2024

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