A variant of spondyloepiphyseal dysplasia congenita (Spranger-Wiedemann).
D002648:Child; D005260:Female; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging / Q000235:genetics*; D009154:Mutation; D011859:Radiography; D013577:Syndrome