Multiple synostoses syndrome (Q51111): Difference between revisions

Multiple synostoses syndrome is a rare autosomal dominant dysostosis characterised by premature joint ankylosis. Affected individuals have characteristic facial manifestations that include a long narrow facies, a broad hemicylindrical nose, with lack of alar flare, and a thin upper vermilion. Most affected individuals develop early-onset oto-sclerotic deafness that responds to stapedectomy. Joint ankyloses begin in early childhood and is progressive. The fifth proximal interphalangeal joint is usually the first to be affected, and the ankylosis proceeds in an ulnar-to-radial and proximal to distal direction, typically involving digits 3, 4, and 5.