Multiple synostosis syndrome

Definition:

Proximal symphalangism is a condition characterized by variable fusion of the proximal interphalangeal joints. Multiple synostosis syndrome (SYNS) is a more severe form of proximal symphalangism with additional bone fusions involving carpal, tarsal, and other joints.

References:

[1]. J C Pedersen, et al. Multiple synostosis syndrome. Eur J Pediatr. 1980 Sep;134(3):273-5. [Content Brief]

[2]. Jian Wang, et al. A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal. J Bone Miner Res. 2016 Apr;31(4):882-9. [Content Brief]

[3]. Katherine Dawson, et al. GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet. 2006 Apr;78(4):708-12. [Content Brief]

[4]. Xiao-Lin Wu, et al. Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. Am J Hum Genet. 2009 Jul;85(1):53-63. [Content Brief]

[5]. Y Gong, et al. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet. 1999 Mar;21(3):302-4. [Content Brief]

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