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GENATLAS PHENOTYPE
last update : 17-11-2015
Symbol SEMDRM
Location 16q21
Name spondyloepimetaphyseal dysplasia with mental retardation
Other name(s) Spondylopeimetaphyseal dsyplasia, Faden-Alkuraya type
Corresponding gene RSPRY1
Other symbol(s) SEMDFA
Main clinical features
  • severe short stature, facial dysmorphism, short fourth metatarsals, and intellectual disability with or without craniosynostosis, facial dysmorphism, scoliosis, intellectual disability, brain asymmetry, and short fourth metatarsals, increasing limited extension of the elbow, distal hyperextensibility, overriding toes, and short trunk with hyperlordosis
  • MRI of the brain at 5 years of age showed asymmetric prominent lateral ventricles with squaring off of the frontal horns and mild thinning of the anterior body of the corpus callosum
  • Skeletal survey at 5 years of age showed significant delay in epiphyseal maturation, coxa vara and small flat femoral epiphysis, generalized osteopenia, copper-beaten appearance of the skull with premature closure of sutures, short metacarpal bones, delayed bone age, platyspondyly
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    mental retardation
    mental retardation
    Type disease
    Remark(s)