Woodhouse-Sakati syndrome (Q87792): Difference between revisions

Woodhouse-Sakati syndrome (WSS) is a multisystem genetic disorder characterized by a combination of endocrine, dermatological, neurological, and cognitive symptoms. Core features include hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal movement disorders such as choreoathetoid movements and dystonia. Nearly all individuals with WSS present with hypogonadism, typically becoming evident at the time of puberty, and progressive hair thinning during childhood, which often advances to complete hair loss (alopecia totalis) in adulthood. More than half of affected individuals develop neurological symptoms, including progressive extrapyramidal movement disorders (such as dystonic spasms and posturing, often accompanied by dysarthria and dysphagia), moderate bilateral sensorineural hearing loss beginning after language acquisition (postlingual), and mild intellectual disability.