Gómez-López-Hernández syndrome

Gómez-López-Hernández syndrome (GLHS), also known as cerebello-trigeminal-dermal dysplasia, is an extremely rare neurodevelopmental disorder characterized by a classic triad of rhombencephalosynapsis (fusion of the cerebellar hemispheres), trigeminal anesthesia (reduced or absent sensation in areas of the face supplied by the trigeminal nerve), and bilateral alopecia (patchy hair loss, typically affecting the parietal and temporal regions of the scalp). The condition was first described in 1979 by Gómez, López, and Hernández. The syndrome primarily affects the central nervous system, skin, and craniofacial structures. In addition to the core triad, affected individuals frequently present with short stature, intellectual disability of variable severity, ataxia (impaired coordination due to cerebellar malformation), corneal opacities, brachycephaly (a short, broad head shape), and midface hypoplasia. Some patients may also exhibit hydrocephalus, seizures, and behavioral abnormalities including hyperactivity and autistic features. Brain imaging typically reveals rhombencephalosynapsis, which is the hallmark neuroanatomical finding, and may also show other posterior fossa abnormalities. There is currently no cure or disease-specific treatment for Gómez-López-Hernández syndrome. Management is supportive and symptomatic, focusing on early developmental intervention, physical and occupational therapy, management of seizures if present, and neurosurgical intervention for hydrocephalus when needed. Ophthalmologic and dermatologic care may also be required. Given the rarity of the condition, with fewer than 40 cases reported in the medical literature, long-term prognosis data are limited, and clinical management is guided by individual patient needs and multidisciplinary care.

Common questions about Gómez-López-Hernández syndrome