Tarsal-carpal coalition syndrome

Definition:

Tarsal-carpal coalition syndrome (TCC) is a condition characterized by fusion of the carpals, tarsals, and phalanges in addition to shortened first metacarpals, brachydactyly, and humeroradial fusion. The fusion of the proximal interphalangeal joints starts at the fifth digit and proceeds to other digits. Humeroradial fusion can also be seen. It is inherited in an autosomal dominant pattern.

References:

[1]. M E Dixon, et al. Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism. Genet Med. 2001 Sep-Oct;3(5):349-53. [Content Brief]

[2]. Tommy A Potti, et al. A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD). Hum Mutat. 2011 Aug;32(8):877-86. [Content Brief]

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