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, a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additonal cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.

Osteoarthritis

Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.


Total: 3

                       


(per page)
PMID (PMCID)
29444731
 MALE Child
Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation.
Arroyave J, Carretero JM, Gruosso D.
Cardiol Young. 2018;28(5):765-767.
Aneurysm-osteoarthritis syndrome is responsible for 2% of familial thoracic aortic aneurysms and dissections and is characterised by aneurysms, dissections, and tortuosity throughout the arterial tree in combination with osteoarthritis.
26221609
(4499615)
 OTHER
A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.
Zhang W, Zhou M, Liu C, Liu C, Qiao T, Huang D, Ran F, Wang W, Liu C, Liu Z.
Biomed Res Int. 2015;2015:968135.
Aneurysms-osteoarthritis syndrome (AOS) is a recently delineated autosomal dominant disorder characterized by aneurysms, dissections, and tortuosity throughout the arterial tree in association with early onset osteoarthritis, mild craniofacial features, and skeletal and cutaneous anomalies.
23693005
 MIXED_SAMPLE Adult
[Patients with aneurysms and osteoarthritis: Marfan syndrome ruled out, so what is it?].
van der Linde D, van de Laar I, Moelker A, Wessels MW, Bertoli-Avella AM, Roos-Hesselink JW.
Ned Tijdschr Geneeskd. 2013;157(21):A5588.
SMAD3 mutations cause aneurysms-osteoarthritis syndrome, an autosomal dominant disorder characterized by aneurysms, dissections and tortuosity throughout the arterial tree, early-onset osteoarthritis and mild craniofacial features.