Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.
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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
spondylometaphyseal dysplasia, Sedaghatian type
MONDO:0009593