Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.
Comprehensive, easy-to-understand information about this condition
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Kniest dysplasia
MONDO:0007987
spondyloepimetaphyseal dysplasia, Strudwick type
MONDO:0008476
spondylometaphyseal dysplasia, Kozlowski type
MONDO:0008477
spondylometaphyseal dysplasia, Schmidt type
MONDO:0008478
spondylometaphyseal dysplasia, 'corner fracture' type
MONDO:0008479
gamma-glutamylcysteine synthetase deficiency
MONDO:0009259