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GENATLAS PHENOTYPE
last update : 21-01-2014
Symbol SMDCRD
Location 3q29
Name spondylometaphyseal dysplasia (SMD) with cone-rod dystrophy
Corresponding gene PCYT1A
Main clinical features
  • profound short stature with rhizomelic shortening of the limbs was observed early in infancy, with increased bowing deformity of the long bones of the legs with progressive metaphyseal flaring, cupping, fragmentation, and sclerosis, platyspondyly associated with ovoid-shaped vertebral bodies
  • vision impairment first recognized in infancy, funduscopy revealed bilateral macular chorioretinal atrophic lesions of variable sizes, ERG showed marked reduction of the cone response, although the rod response was relatively preserved, consistent with a mild form of cone dystrophy
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    eye
    Type disease
    Remark(s)