Wilson-Turner syndrome

Wilson-Turner syndrome is a rare X-linked inherited condition marked by intellectual disability and obesity that begins in childhood. It is caused by a mutation in the HDAC8 gene at Xq13.1, which affects an enzyme that helps regulate the cohesin complex and gene activity during development. Males are affected most, with intellectual disability ranging from mild to severe, delayed speech, mood swings, truncal obesity that becomes obvious near puberty, tapered fingers, small hands and feet, hypogonadism with scant body hair, and enlarged breast tissue (gynecomastia). Facial features can include a small head, high forehead, prominent ears and a flattened nose bridge. Females who carry the change usually have milder signs or none. Diagnosis combines clinical evaluation, family history and molecular testing of HDAC8. The syndrome was described from a small number of families, and the Wikipedia article puts its frequency at about one in a million. There is no cure, so care targets single problems: diet and exercise for weight, testosterone replacement for hypogonadism, and breast reduction surgery when gynecomastia is severe or distressing.