Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder.
A progressive and potentially lethal skeletal dysplasia, spondylo-epimetaphyseal dysplasia with joint laxity (SEMDJL), has been recognized in 18 children from the Afrikaner community of South Africa. This serious disorder, which is inherited as an autosomal recessive trait, warrants diagnostic consideration whenever an infant or child from this population group presents with dwarfism, deformity, articular hypermobility and spinal malalignment. In view of the clinical and genetic implications, diagnostic precision is of great importance.
D001848:Bone Diseases, Developmental / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007593:Joint Instability / Q000150:complications*; D008297:Male; D012600:Scoliosis / Q000150:complications*