Proximal symphalangism

Definition:

Proximal symphalangism (SYM) is an autosomal-dominant condition characterized by variable fusion of the proximal interphalangeal joints.

References:

[1]. Sara K Plett, et al. Cushing proximal symphalangism and the NOG and GDF5 genes. Pediatr Radiol. 2008 Feb;38(2):209-15. [Content Brief]

[2]. Wei Yang, et al. Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. J Hum Genet. 2008;53(4):368-374. [Content Brief]

[3]. 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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