spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
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.
MONDO:0016763
spondylometaphyseal dysplasia
is_a
SMD-CRD
exact
SMDCRD
related
SmD-CRD
exact
spondylometaphyseal dysplasia with cone-rod dystrophy
related
spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
exact
SPCC1827.02c