Spondylocarpotarsal synostosis syndrome

Definition:

Spondylocarpotarsal synostosis syndrome is an autosomal recessive disease characterized by the malsegmentation of vertebrae and the fusion of carpal and tarsal bones. Retinal anomalies and hearing loss are also observed. Spondylocarpotarsal synostosis syndrome is due to FLNB mutations.

References:

[1]. Nicola Brunetti-Pierri, et al. Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations. Am J Med Genet A. 2008 May 1;146A(9):1230-3. [Content Brief]

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