The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity.
Spondylo-epi-metaphyseal dysplasia with joint laxity (SEMDJL) is characterized by severe dwarfism, articular hypermobility and progressive spinal malalignment. The clinical manifestations of 18 affected persons in 13 families of the Afrikans-speaking community of South Africa have been analysed and it has become evident that survival into adulthood is unusual. SEMDJL is inherited as an autosomal recessive trait.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007593:Joint Instability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome