A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.
Comprehensive, easy-to-understand information about this condition
Checking for content...
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, Irapa type
MONDO:0010076
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
MONDO:0010077