Spondylometaphyseal dysplasia with cone-rod dystrophy
Alternate names
SMD-CRD
Summary
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised 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.
NIH genetic and rare disease info
Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare disease.
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