Spondyloepiphyseal dysplasia (SED) of Maroteaux is a very rare skeletal dysplasia. Disease manifestations are restricted to the musculoskeletal system and include abnormalities of the spine, epiphyses and metaphyses and multiple dislocations of the large joints. Spondylar dysplasia, epiphyseal dysplasia of the large joints, and type E-like brachydactyly are observed with SED Maroteaux type. These abnormalities result in a short-trunk disproportionate dwarfism. Also, dysmorphic features are noticed including a short and upturned nose with a depressed nasal bridge and midface hypoplasia.
Spondyloepiphyseal dysplasia (SED) Maroteaux type is inherited in an autosomal dominant pattern. It is associated with mutations in the TRPV4 gene.