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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD26 Syndromes with limb anomalies as a major feature
H00778 Tarsal-carpal coalition syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06507 TGFB signaling
H00778 Tarsal-carpal coalition syndrome
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).
