A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.
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spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
MONDO:0008469
spondyloepimetaphyseal dysplasia, Maroteaux type
MONDO:0008473
spondyloepimetaphyseal dysplasia, Strudwick type
MONDO:0008476
spondyloepimetaphyseal dysplasia, sponastrime type
MONDO:0010068
spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
MONDO:0010075
spondyloepimetaphyseal dysplasia, Irapa type
MONDO:0010076