HEC syndrome

HEC syndrome, also known as Hypertrichosis-Epilepsy-Mental retardation/Intellectual disability syndrome (Orphanet code 2119), is an extremely rare genetic condition characterized by the triad of hypertrichosis (excessive hair growth), epilepsy, and intellectual disability. The syndrome was described in a small number of families and affects multiple body systems, primarily the integumentary (skin/hair) system and the central nervous system. The hypertrichosis in HEC syndrome is typically generalized, meaning excessive hair growth occurs over large areas of the body. Epilepsy may present with various seizure types during childhood, and the degree of intellectual disability can range from mild to severe. Additional features reported in some cases include coarse facial features and gingival hyperplasia (overgrowth of the gums). The condition is present from birth or early childhood. There is no specific cure or targeted therapy for HEC syndrome. Management is supportive and symptomatic, focusing on seizure control with antiepileptic medications, educational support and developmental interventions for intellectual disability, and cosmetic management of hypertrichosis if desired. Due to the extreme rarity of this condition, published literature is very limited, and much of the clinical characterization is based on a small number of reported cases.

Common questions about HEC syndrome