X-linked intellectual disability, Wilson type

X-linked intellectual disability, Wilson type (also known as Wilson-Turner syndrome) is a rare genetic condition characterized by intellectual disability, obesity, gynecomastia (breast enlargement in males), speech difficulties, emotional lability, tapering fingers, and small feet. The condition primarily affects males, as it follows an X-linked pattern of inheritance, while carrier females may show mild or no symptoms. The syndrome affects multiple body systems, including the central nervous system (leading to cognitive impairment and behavioral features), the endocrine system (contributing to obesity and gynecomastia), and musculoskeletal development (resulting in characteristic hand and foot findings). Affected individuals typically present with mild to moderate intellectual disability, and some may exhibit short stature and a characteristic facial appearance. Hypogonadism has also been reported in some patients. There is currently no specific cure or targeted therapy for Wilson-Turner syndrome. Management is supportive and symptomatic, focusing on educational support, speech therapy, behavioral interventions, and management of obesity and endocrine abnormalities. Hormonal evaluation may be warranted given the association with gynecomastia and hypogonadism. Genetic counseling is recommended for affected families to understand recurrence risks and carrier status.

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