Spondylo-Meta-Epiphyseal Dysplasia Short Limbs Abnormal Calcifications type (SMED,SL-AC) is a rare autosomal recessive disorder clinically characterized by dwarfism, peculiar facial dysmoprphism, muscular hypotonia, short limbs, small hands and normal intelligence. Main radiological findings are broad and short bones in the extremities and pelvis, vertebral and costal abnormalities, metaphyso-epiphyseal changes and abnormal calcifications. Mutations in DDR2 gene are known to be responsible for this disease with recurrence of the arab mutation (p.Arg752Cys) at exon 17. By reporting this recurrent mutation for the first time in a Moroccan patient with SMED,SL-AC, we reveal the transfer of this mutation from arabian peninsula to morocco through migration of population.
