Preferred Label : Multiple synostoses syndrome;
ICD-11 definition : Multiple synostoses syndrome is a rare autosomal dominant dysostosis characterized
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.;
Origin ID : 248917534;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Validated automatic mappings to BTNT
Multiple synostoses syndrome is a rare autosomal dominant dysostosis characterized
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.
