Abstract
Dyggve-Melchior-Clausen syndrome is a progressive spondylo-epi-metaphyseal dysplasia associated with mental retardation, characterized by a triad of skeletal deformities (short trunk dwarfism, scoliosis, microcephaly, and limb deformities), facial dysmorphism, and intellectual disability. It an extremely rare condition. Till now, there was no evidence of association of Dyggve-Melchior-Clausen Syndrome with mood disorder. This case report highlights the extremely rare association of Dyggve-Melchior-Clausen syndrome with bipolar affective disorder. The patient had responded well to the combination of mood stabilizer and antipsychotics (sodium valproate and risperidone). To the best of author's knowledge, this is the first case report depicting such association. Both Dyggve-Melchior-Clausen syndrome and bipolar affective disorder are associated with 18q chromosome. This background information raises the possibility of co-morbid association of two disorders rather than a chance association due to genetic linkage.