Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
Search for a rare disease
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.
ORPHA:284984
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
General public
Guidelines
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Newborn screening