Spondyloepiphyseal dysplasia, Maroteaux type

Definition:

Spondylo-epiphyseal dysplasia (SED), Maroteaux type, also known as pseudo-Morquio syndrome type 2, is an autosomal dominant chondrodysplasia characterized by short stature with marked shortening of the trunk, and brachydactyly. Facial deformities, ocular changes, and neurodevelopmental abnormalities are absent. It is caused by TRPV4 mutations.

References:

[1]. Gen Nishimura, et al. Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet A. 2010 Jun;152A(6):1443-9. [Content Brief]

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