Spondyloepiphyseal dysplasia tarda

Definition:

X-linked spondyloepiphyseal dysplasia tarda is a rare osteochondrodysplasia characterized by disproportionately short stature with short trunk. The symptoms of this condition appear later in childhood between ages 3 and 12.

References:

[1]. Hong Guo, et al. A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family. J Genet. 2009 Apr;88(1):87-91. [Content Brief]

[2]. Min Zong, et al. The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability. PLoS One. 2011;6(8):e23350. [Content Brief]

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