First Report of SYNE1 Arthrogryposis Multiplex Congenita From Saudi Arabia With a Novel Mutation: A Case Report

Abstract Introduction: Arthrogryposis multiplex congenita (AMC), is a rare congenital condition characterized by multiple joint contractures often affecting both arms and legs which start prior to birth.Patient concern: The pediatrician attending delivery noticed the baby being dysmorphic with generalized hypotonia and multiple joint contractures at birth with antenatal history of reduced fetal movement. The patient was admitted to the neonatal intensive care unit for strict observation and further work up.Diagnosis: Whole Exome Sequencing was performed and identified the novel homozygous variant in the synaptic nuclear envelope protein1 [SYNE1] gene.Intervention: Multidisciplinary team were involved in the management plan, supportive care was the mainstay of treatment.Outcomes: Due to feeding difficulties and on and off requirement of oxygen support, the patient remained hospitalized for a long period then was discharged home on supplemental oxygen and gastrostomy tube feeding.Conclusions: AMC3 should be suspected in patients with decreased fetal movements, dysmorphic features, hypotonia, and arthrogryposis. Molecular testing of the SYNE1 gene confirms diagnosis.