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multiple synostoses syndrome 1 (SYNS1); synostoses, multiple, with brachydactyly; symphalangism-brachydactyly syndrome
Genetics:
1) autosomal dominant
2) associated with defects in NOG gene
3) different mutations in NOG can result in either tarsal-carpal coalition syndrome or multiple synostoses syndrome-1 in different families
Clinical manifestations:
1) tubular-shaped (hemicylindrical) nose with lack of alar flare
2) otosclerotic deafness
3) multiple progressive joint fusions beginning in the hand
- begin in the 5th proximal interphalangeal joint in early childhood (or at birth in some individuals)
- progress in an ulnar-to-radial & proximal-to-distal direction
- with increasing age, ankylosis of other joints, including cervical vertebrae, hips, & humeroradial joints
General
multiple synostoses syndrome
Database Correlations
OMIM 186500
References
OMIM :accession 186500