Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
MONDO:0012160Spondylometaphyseal 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.
Also known as: SMD-CRD, SmD-CRD, spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, SMDCRD, spondylometaphyseal dysplasia with cone-rod dystrophy
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