Skraban-Deardorff syndrome

Skraban–Deardorff syndrome

Skraban–Deardorff syndrome is an ultra-rare genetic disorder caused by pathogenic variants of the WDR26 gene. It is characterized by global developmental delay, intellectual disability, friendly demeanor, unusual walking, seizures, feeding difficulties and distinct facial features. The condition occurs due to insufficient levels of functional WDR26 protein, which disrupt various cellular mechanisms involved in the development of the nervous system. While cases reported in medical literature have occurred spontaneously (de novo), it can be inherited in an autosomal dominant manner. Skraban–Deardorff syndrome shares significant clinical overlap with chromosome 1q41q42 microdeletion syndrome. Diagnosis is established through genetic testing in individuals with characteristic features. Management is supportive and individualized, including interventions for developmental and behavioral concerns, educational programs based on cognitive abilities, and treatment of seizures. First described in 2017, approximately 150 individuals have been diagnosed with Skraban–Deardorff syndrome as of 2023.