A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.
Comprehensive, easy-to-understand information about this condition
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spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
MONDO:0008469
spondyloepimetaphyseal dysplasia, Maroteaux type
MONDO:0008473
spondyloepimetaphyseal dysplasia, Strudwick type
MONDO:0008476
spondyloepimetaphyseal dysplasia, Irapa type
MONDO:0010076
spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
MONDO:0010077
spondyloepimetaphyseal dysplasia, Bieganski type
MONDO:0010275