Woodhouse-Sakati Syndrome: The New Genetic Variant Of DCAF17 In Two Adult Sisters

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder characterized by symptoms such as progressive extrapyramidal signs, mental retardation, alopecia, and various endocrine deficiencies. This report highlights a new genetic variant of DCAF17 found in 2 adult sisters with WSS, marking the first such case identified in the Russian Federation. The sisters exhibit distinctive phenotypical features, contributing to the understanding of WSS's diverse manifestations. While no specific treatment exists, genetic testing aids in diagnosis, prognosis, and the development of comprehensive patient-oriented care.