Schwartz Jampel Syndrome: A case report

Abstract

Schwartz-Jampel Syndrome (SJS) is an extremely rare autosomal recessive genetic disorder, only about 130 cases have been reported worldwide. Affected individuals present with distinctive craniofacial features, skeletal abnormalities (chondrodysplasia) and persistent muscle stiffness (myotonia). We present the case of a 3-year-old boy born to first-degree consanguineous parents, referred for global developmental delay with facial dysmorphism. Neurophysiological investigations demonstrated frequent myotonic discharges typical of SJS. The patient was treated with carbamazepine. By the time of his last follow-up at 17 years of age, his myotonia had shown slight improvement and the disease course was marked by learning difficulties, ataxic gait, and progressive worsening of skeletal deformities. This case of SJS highlights classic features alongside rare findings like neurodevelopmental delay and severe anemia, expanding its clinical spectrum.