Multiple synostoses syndrome (Q51111): Difference between revisions
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A síndrome de sinostoses múltiplas é uma disostose autossômica dominante rara caracterizada por anquilose articular prematura. Os indivíduos afetados apresentam manifestações faciais características que incluem uma fácies longa e estreita, um nariz hemicilíndrico largo, com ausência de alargamento alar e um lábio superior fino. A maioria dos indivíduos afetados desenvolve surdez otoesclerótica de início precoce que responde à estapedectomia. As anquiloses articulares começam na primeira infância e são progressivas. A quinta articulação interfalangiana proximal é geralmente a primeira a ser afetada, e a anquilose prossegue na direção ulnar-radial e proximal para distal, geralmente envolvendo os dedos 3, 4 e 5. | |||
| description / en | description / en | ||
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. | |||
Revision as of 22:14, 13 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_248917534 |
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| English | Multiple synostoses syndrome |
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. |
